(used for variant description)
(last modified February 17, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_014915.2 in the ANKRD26 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031973.2, covering ANKRD26 transcript NM_014915.2.
(upstream sequence)
. . . . . g.5052
acttgtgtctagcgggatcgcttgcttggtaacccggagggagagattggaa c.-121
. . . . . . g.5112
accgcggagtttcctttgggaggctgcggccagccggggctgacttgttatgttgggctc c.-61
. . . . . . g.5172
cggaggccgttaagagccgagagagacatgaggtgtctctgaagcccggtcgcctgggcc c.-1
. . . . . . g.5232
ATGAAGAAGATTTTTAGTAAGAAGGGCGAGTCGCCCTTGGGCTCCTTCGCGCGGCGGCAG c.60
M K K I F S K K G E S P L G S F A R R Q p.20
. . . . . . g.5292
AGGAGCAGCGCGGGAGGCGGGGGCGAGCCGGGGGAGGGCGCCTACTCGCAGCCCGGCTAC c.120
R S S A G G G G E P G E G A Y S Q P G Y p.40
. . . . . . g.5352
CACGTCCGAGACCGAGATCTCGGCAAGATCCACAAAGCTGCCAGCGCGGGTAATGTGGCG c.180
H V R D R D L G K I H K A A S A G N V A p.60
. . . . . . g.5412
AAAGTGCAGCAGATCCTTTTGCTCAGGAAGAATGGCTTGAACGATAGAGACAAGATGAAC c.240
K V Q Q I L L L R K N G L N D R D K M N p.80
| 02 . . . . . . g.11757
AG | GACGGCTCTACATTTGGCCTGTGCCAATGGTCATCCAGAAGTAGTAACTCTCCTGGTG c.300
R | T A L H L A C A N G H P E V V T L L V p.100
. . . . . | 03. g.11979
GACAGAAAATGCCAGCTCAATGTCTGTGACAACGAAAACAGGACAGCTCTGATGAAG | GCT c.360
D R K C Q L N V C D N E N R T A L M K | A p.120
. . . . . . g.12039
GTACAATGCCAGGAAGAGAAATGTGCAACTATTCTGCTAGAACATGGTGCTGATCCAAAT c.420
V Q C Q E E K C A T I L L E H G A D P N p.140
. . . . . . g.12099
CTTGCGGATGTCCATGGCAACACTGCTCTTCACTATGCTGTCTATAATGAGGACATATCA c.480
L A D V H G N T A L H Y A V Y N E D I S p.160
. . . . . | 04 . g.12995
GTAGCAACAAAGCTGCTTTTGTATGATGCAAATATTGAAGCAAAAAACAAG | GATGACCTC c.540
V A T K L L L Y D A N I E A K N K | D D L p.180
. . . . . . g.13055
ACACCACTTTTACTTGCAGTAAGTGGAAAAAAGCAGCAAATGGTGGAATTTTTAATAAAG c.600
T P L L L A V S G K K Q Q M V E F L I K p.200
. . . | 05 . . g.18911
AAAAAAGCAAATGTAAATGCAGTAGATAAGTTGGAAAG | CAGTCACCAACTAATTTCAGAA c.660
K K A N V N A V D K L E S | S H Q L I S E p.220
. . . . | 06 . g.22676
TATAAAGAAGAAAGGATACCTAAACATTCTTCTCAAAATAGTAATTCAG | TGGATGAAAGC c.720
Y K E E R I P K H S S Q N S N S V | D E S p.240
. . | 07 . . . . g.26377
TCTGAAGACTCCTTAAGCAG | GCTTTCTGGCAAACCGGGTGTTGATGATTCATGGCCTACC c.780
S E D S L S R | L S G K P G V D D S W P T p.260
. . . | 08 . . . g.27832
TCAGATGACGAAGACCTCAATTTTGATACTAAG | AATGTCCCAAAACCAAGCTTAGCAAAG c.840
S D D E D L N F D T K | N V P K P S L A K p.280
. . . | 09 . . . g.27984
CTAATGACTGCTTCTCAGCAATCCAGGAAAAATT | TAGAAGCAACATATGGCACTGTGAGA c.900
L M T A S Q Q S R K N L | E A T Y G T V R p.300
. . . . . . g.28044
ACAGGAAATAGAACTTTGTTTGAGGATAGAGATTCCGATAGTCAAGATGAAGTTGTGGTT c.960
T G N R T L F E D R D S D S Q D E V V V p.320
. . . . . . g.28104
GAAAGCCTTCCTACAACATCAATCAAAGTCCAGTGCTTTTCTCATCCTACCTATCAATCA c.1020
E S L P T T S I K V Q C F S H P T Y Q S p.340
. . . . . | 10. g.38215
CCTGACCTTCTTCCAAAACCTTCCCACAAGTCGTTAGCAAACCCTGGTCTTATGAAG | GAA c.1080
P D L L P K P S H K S L A N P G L M K | E p.360
. . . . . . g.38275
GAACCAACAAAGCCAGGCATTGCAAAAAAAGAAAATGGTATTGATATTATTGAAAGTGCT c.1140
E P T K P G I A K K E N G I D I I E S A p.380
. . . . . . g.38335
CCACTAGAGCAAACAAATAATGACAATTTGACTTATGTTGATGAAGTGCACAAAAATAAT c.1200
P L E Q T N N D N L T Y V D E V H K N N p.400
| 11. . . . . . g.39003
AGAAGTG | ATATGATGTCCGCATTAGGATTAGGACAAGAGGAAGATATAGAATCACCTTGG c.1260
R S D | M M S A L G L G Q E E D I E S P W p.420
| 12 . . . . . g.41468
GATTCTGAG | AGTATCTCTGAGAATTTTCCACAGAAGTATGTTGATCCTTTAGCTGGGGCT c.1320
D S E | S I S E N F P Q K Y V D P L A G A p.440
. . . . | 13 . . g.44273
GCAGACGGAAAAGAAAAAAATATAGGAAATGAACAAGCAGAAG | ATGTGTTTTATATACCT c.1380
A D G K E K N I G N E Q A E D | V F Y I P p.460
. . . . . . g.44333
TCTTGCATGAGTGGATCAAGAAACTTTAAGATGGCTAAACTAGAGGATACAAGAAATGTA c.1440
S C M S G S R N F K M A K L E D T R N V p.480
. . | 14 . . . | 15 . g.45090
GGCATGCCAGTAGCCCACATGG | AGTCTCCTGAGAGATATCTTCACTTGAAG | CCTACCATT c.1500
G M P V A H M E | S P E R Y L H L K | P T I p.500
. . . . . . g.45150
GAAATGAAAGATTCTGTTCCAAATAAAGCAGGAGGAATGAAGGATGTACAAACATCCAAA c.1560
E M K D S V P N K A G G M K D V Q T S K p.520
| 16 . . . . . . g.52164
GCAG | CTGAACATGACTTAGAAGTAGCATCAGAAGAAGAGCAAGAAAGGGAAGGGAGTGAA c.1620
A A | E H D L E V A S E E E Q E R E G S E p.540
. | 17 . . . . . g.56564
AATAACCAGCCACAG | GTTGAAGAAGAAAGGAAAAAACACAGAAATAATGAAATGGAAGTA c.1680
N N Q P Q | V E E E R K K H R N N E M E V p.560
. . . . . . g.56624
TCAGCAAACATACATGATGGTGCTACTGATGATGCTGAAGATGATGATGATGATGATGGA c.1740
S A N I H D G A T D D A E D D D D D D G p.580
. . . . . . g.56684
TTAATTCAAAAAAGAAAGAGTGGAGAAACTGATCATCAGCAATTTCCCAGGAAGGAAAAT c.1800
L I Q K R K S G E T D H Q Q F P R K E N p.600
. | 18 . . . . . g.59021
AAAGAGTATGCTAG | TAGTGGTCCTGCCTTGCAAATGAAGGAAGTAAAGAGCACTGAAAAA c.1860
K E Y A S | S G P A L Q M K E V K S T E K p.620
. . . . . . g.59081
GAAAAACGGACCTCGAAAGAATCTGTGAATTCACCAGTGTTTGGGAAGGCCAGTTTACTA c.1920
E K R T S K E S V N S P V F G K A S L L p.640
. . . . . . g.59141
ACTGGTGGCCTGCTACAAGTGGATGATGACAGCAGTTTAAGTGAAATAGATGAGGATGAA c.1980
T G G L L Q V D D D S S L S E I D E D E p.660
| 19 . . . | 20 . . g.61952
GGAAG | GCCTACTAAGAAAACATCTAATGAAAAGAACAAG | GTCAAAAACCAAATACAGTCT c.2040
G R | P T K K T S N E K N K | V K N Q I Q S p.680
. . . . . . g.62012
ATGGATGATGTTGATGACTTAACTCAGTCATCTGAAACAGCCTCAGAGGATTGTGAGCTA c.2100
M D D V D D L T Q S S E T A S E D C E L p.700
. . . . . . g.62072
CCCCACTCTAGTTACAAGAATTTTATGTTGCTCATTGAACAACTTGGAATGGAGTGTAAA c.2160
P H S S Y K N F M L L I E Q L G M E C K p.720
| 21 . . . . . . g.65379
G | ATTCTGTTAGCCTATTGAAAATCCAGGATGCAGCTCTTTCATGTGAAAGATTATTAGAA c.2220
D | S V S L L K I Q D A A L S C E R L L E p.740
. . . . . . g.65439
CTTAAAAAAAATCACTGTGAACTACTTACAGTAAAAATTAAAAAAATGGAAGACAAGGTT c.2280
L K K N H C E L L T V K I K K M E D K V p.760
. . . . . . g.65499
AATGTACTACAAAGGGAGCTATCTGAAACAAAAGAAATAAAATCACAGTTAGAGCATCAA c.2340
N V L Q R E L S E T K E I K S Q L E H Q p.780
. . . | 22 . . . g.67469
AAAGTTGAATGGGAACGAGAACTGTGCTCTTTGAG | ATTTAGCTTAAACCAAGAAGAAGAG c.2400
K V E W E R E L C S L R | F S L N Q E E E p.800
. . . . . . g.67529
AAGAGAAGAAATGCTGATACGTTGTATGAAAAAATTAGGGAACAGTTAAGAAGAAAAGAA c.2460
K R R N A D T L Y E K I R E Q L R R K E p.820
. . . . . . g.67589
GAGCAATATAGGAAAGAAGTTGAAGTGAAACAACAGCTTGAACTGAGTCTCCAAACACTG c.2520
E Q Y R K E V E V K Q Q L E L S L Q T L p.840
. . . | 23 . . g.68196
GAGATGGAATTGAGGACTGTAAAAAGTAATTTGAATCAG | GTCGTTCAAGAGCGAAATGAC c.2580
E M E L R T V K S N L N Q | V V Q E R N D p.860
. . . . . . g.68256
GCTCAGAGGCAACTTTCTCGAGAACAGAATGCCAGAATGTTACAAGATGGAATTCTGACC c.2640
A Q R Q L S R E Q N A R M L Q D G I L T p.880
. . . . . | 24. g.69749
AATCACCTTTCCAAACAAAAGGAGATTGAAATGGCTCAAAAGAAAATGAATTCTGAG | AAT c.2700
N H L S K Q K E I E M A Q K K M N S E | N p.900
. . . . . . g.69809
TCTCATAGTCATGAAGAAGAAAAAGACCTATCGCATAAAAATAGCATGTTGCAGGAAGAA c.2760
S H S H E E E K D L S H K N S M L Q E E p.920
. . . . . . g.69869
ATTGCTATGCTAAGACTAGAAATAGACACAATAAAAAATCAAAACCAGGAAAAAGAAAAG c.2820
I A M L R L E I D T I K N Q N Q E K E K p.940
. . . . . . g.69929
AAATGTTTTGAGGACCTTAAAATTGTAAAAGAAAAGAATGAAGACCTTCAGAAGACTATA c.2880
K C F E D L K I V K E K N E D L Q K T I p.960
. . . . . . g.69989
AAACAGAATGAGGAAACATTAACACAAACAATATCCCAGTATAATGGACGGCTTAGTGTT c.2940
K Q N E E T L T Q T I S Q Y N G R L S V p.980
. . . . . . g.70049
CTGACAGCTGAGAATGCAATGCTAAATTCTAAACTGGAGAATGAAAAGCAAAGCAAGGAA c.3000
L T A E N A M L N S K L E N E K Q S K E p.1000
. . . . . . g.70109
AGACTGGAAGCAGAAGTTGAATCATACCATTCTAGATTGGCTGCTGCTATACATGATCGT c.3060
R L E A E V E S Y H S R L A A A I H D R p.1020
. . . . . . g.70169
GATCAAAGTGAGACATCAAAAAGAGAACTAGAACTTGCTTTCCAGAGAGCAAGAGATGAA c.3120
D Q S E T S K R E L E L A F Q R A R D E p.1040
. . . . . . g.70229
TGTTCTCGTTTACAGGACAAAATGAATTTTGATGTGTCTAACCTAAAAGATAACAATGAG c.3180
C S R L Q D K M N F D V S N L K D N N E p.1060
. . . . . . g.70289
ATTCTTTCTCAACAACTATTTAAAACTGAAAGTAAACTCAATAGCCTAGAAATTGAGTTC c.3240
I L S Q Q L F K T E S K L N S L E I E F p.1080
. . . . . . g.70349
CATCACACGAGAGATGCCCTCAGAGAAAAGACTTTGGGTTTAGAACGGGTACAAAAGGAC c.3300
H H T R D A L R E K T L G L E R V Q K D p.1100
. . . . . . g.70409
CTAAGCCAAACACAGTGTCAAATGAAGGAAATGGAACAAAAGTATCAAAATGAACAAGTT c.3360
L S Q T Q C Q M K E M E Q K Y Q N E Q V p.1120
. . . . . . g.70469
AAAGTGAATAAATACATTGGAAAGCAGGAGTCTGTAGAGGAGAGATTGTCTCAACTACAA c.3420
K V N K Y I G K Q E S V E E R L S Q L Q p.1140
. . . . . . g.70529
AGTGAGAATATGTTGCTTCGACAACAACTGGATGATGCCCACAACAAGGCTGACAATAAA c.3480
S E N M L L R Q Q L D D A H N K A D N K p.1160
. . . . . . g.70589
GAGAAGACAGTGATTAATATCCAAGACCAGTTTCATGCTATTGTGCAAAAACTTCAAGCT c.3540
E K T V I N I Q D Q F H A I V Q K L Q A p.1180
. . . . . . g.70649
GAGAGTGAAAAGCAAAGTCTTCTGCTAGAAGAAAGAAATAAGGAGTTAATCAGTGAATGT c.3600
E S E K Q S L L L E E R N K E L I S E C p.1200
. . . . . | 25 . g.72127
AATCACTTAAAAGAAAGACAGTATCAATATGAAAATGAAAAGGCAGAAAGAGAA | GTTGTT c.3660
N H L K E R Q Y Q Y E N E K A E R E | V V p.1220
. . . . . . g.72187
GTGAGACAACTTCAACAAGAACTAGCTGATACCCTAAAAAAACAATCTATGTCAGAGGCT c.3720
V R Q L Q Q E L A D T L K K Q S M S E A p.1240
. . . . . . g.72247
TCACTGGAGGTTACGTCACGTTATCGTATTAATTTAGAAGATGAGACACAGGATTTAAAG c.3780
S L E V T S R Y R I N L E D E T Q D L K p.1260
. . | 26. . . . g.76175
AAGAAATTAGGTCAAATCAGAAATCAA | TTGCAAGAAGCACAGGATCGACATACAGAAGCT c.3840
K K L G Q I R N Q | L Q E A Q D R H T E A p.1280
. . . | 27 . . g.76575
GTCAGATGTGCTGAGAAGATGCAAGATCACAAGCAAAA | GCTTGAAAAAGATAATGCCAAG c.3900
V R C A E K M Q D H K Q K | L E K D N A K p.1300
. . . . . . g.76635
TTAAAAGTTACAGTCAAAAAGCAAATGGACAAAATTGAGGAGCTTCAGAAAAACCTGTTA c.3960
L K V T V K K Q M D K I E E L Q K N L L p.1320
. | 28 . . . . . g.80987
AATGCAAATTTG | TCTGAAGATGAAAAGGAACAATTAAAGAAACTTATGGAATTAAAACAG c.4020
N A N L | S E D E K E Q L K K L M E L K Q p.1340
. . . . . . g.81047
TCACTGGAATGTAATTTGGATCAAGAAATGAAGAAAAATGTTGAATTAGAAAGAGAGATA c.4080
S L E C N L D Q E M K K N V E L E R E I p.1360
| 29 . . . . . . g.82866
ACTGG | ATTTAAGAACCTCTTAAAAATGACAAGAAAGAAGTTAAATGAATATGAAAATGGA c.4140
T G | F K N L L K M T R K K L N E Y E N G p.1380
. . . . . . g.82926
GAATTTAGTTTCCATGGAGATTTAAAAACTAGTCAATTTGAAATGGATATTCAGATTAAT c.4200
E F S F H G D L K T S Q F E M D I Q I N p.1400
. | 30 . . . . . g.87751
AAGCTAAAACATAAG | ATTGATGATCTTACAGCAGAACTGGAGACTGCAGGTTCAAAATGT c.4260
K L K H K | I D D L T A E L E T A G S K C p.1420
. . . . . . g.87811
CTACATCTGGATACAAAGAACCAAATTCTTCAAGAGGAGTTGTTATCTATGAAAACAGTA c.4320
L H L D T K N Q I L Q E E L L S M K T V p.1440
. . . . . . g.87871
CAAAAGAAATGTGAAAAACTACAGAAGAATAAAAAGAAGTTGGAACAAGAAGTGATCAAC c.4380
Q K K C E K L Q K N K K K L E Q E V I N p.1460
. . . . . . g.87931
CTGAGAAGTCATATAGAAAGGAATATGGTAGAACTTGGTCAAGTCAAACAGTATAAACAG c.4440
L R S H I E R N M V E L G Q V K Q Y K Q p.1480
. . . . . . g.87991
GAGATTGAAGAAAGAGCAAGACAGGAAATAGCAGAAAAATTAAAAGAAGTCAATCTATTT c.4500
E I E E R A R Q E I A E K L K E V N L F p.1500
| 31 . . . . . . g.90841
TTACAG | GCACAAGCAGCATCTCAAGAAAACTTAGAGCAGTTTAGAGAGAATAATTTTGCT c.4560
L Q | A Q A A S Q E N L E Q F R E N N F A p.1520
. . . . . . g.90901
TCAATGAAAAGTCAGATGGAACTCAGAATTAAAGATCTGGAATCTGAACTCTCCAAAATA c.4620
S M K S Q M E L R I K D L E S E L S K I p.1540
. . . . . . g.90961
AAAACTTCTCAAGAAGACTTTAATAAAACCGAACTGGAAAAATATAAGCAACTCTATCTA c.4680
K T S Q E D F N K T E L E K Y K Q L Y L p.1560
. . . . | 32 . . g.92404
GAAGAATTAAAAGTTAGAAAATCTTTGTCAAGTAAACTAACCAA | AACTAATGAGAGGCTA c.4740
E E L K V R K S L S S K L T K | T N E R L p.1580
. . . . . . g.92464
GCAGAGGTCAACACCAAACTTCTTGTGGAAAAACAGCAGAGCAGATCTTTGTTCACCACT c.4800
A E V N T K L L V E K Q Q S R S L F T T p.1600
. . . . . . g.92524
CTCACTACCAGGCCAGTCATGGAGCCACCTTGTGTGGGAAATCTTAATAATAGTTTAGAT c.4860
L T T R P V M E P P C V G N L N N S L D p.1620
. . . . . . g.92584
CTCAACAGAAAACTTATTCCAAGAGAAAACTTAGTGATCTCTACCTCAAATCCACGGGCT c.4920
L N R K L I P R E N L V I S T S N P R A p.1640
. . . | 33 . . . g.98563
TCAAATAATAGCATGGAGAACTACTTGAGCAAG | ATGCAGCAGGAGTTGGAAAAAAATATA c.4980
S N N S M E N Y L S K | M Q Q E L E K N I p.1660
. | 34 . . . . g.99816
ACTAGAGAACTCAAAGAAG | CTGCTGCTGAATTGGAATCTGGATCAATAGCTTCCCCTCTA c.5040
T R E L K E A | A A E L E S G S I A S P L p.1680
. . . . . . g.99876
GGGTCTACTGATGAGTCAAATCTAAATCAAGATCTAGTTTGGAAAGCATCAAGAGAATAT c.5100
G S T D E S N L N Q D L V W K A S R E Y p.1700
. . . g.99909
GTACAGGTTTTAAAGAAAAATTATATGATCTGA c.5133
V Q V L K K N Y M I X p.1710
. . . . . . g.99969
aagataagattttattactgggctgtttatgtgacattttgtttctcattaaatattaat c.*60
. . . . . . g.100029
atatgacatgtaaaaatattaaaggaacgtatttttgtatcatatatgtcagatcaaaat c.*120
. . . . . . g.100089
ttatatagtattttaaacaatgttacttggcttctttaacttttaagtggattttgccaa c.*180
. . . . . . g.100149
tgaaaaccaggaatattgagttttacatactcaaactgcccaaatgtgagctgtttaaac c.*240
. . . . . . g.100209
agccaaaccactaagttgtcattaatactttagtgcagttaattgatggcttatttgtat c.*300
. . . . . . g.100269
tttgtaatttttatcactatatgtagtggtagatgtctaattggacttagacatcatttt c.*360
. . . . . . g.100329
gttgtgcaggaactgtggtcattgttcatgtttggatgtattacaattgttacagtgcca c.*420
. . . . . . g.100389
tcaaatttacataattttaattttaagcactgatttatatagctgttctcagggagaaac c.*480
. . . . . . g.100449
aagatttgcctgattcaccttttctgtttgtttatttatttttaattaaccttttggaaa c.*540
. . . . . . g.100509
tagccttcagtttagagaaaatttcgaagttttagtacaaagactttctcctccgaacaa c.*600
. . . . . . g.100569
tttgagagtaaattgctgacattatgtcatcacccctgattactttagtgggcattccta c.*660
. . . . . . g.100629
caagtcaggacattctacataactacagtgcaaaccttgcaatcagaaagtcaacattaa c.*720
. . . . . . g.100689
tacattctagtttgttacttctctgtaatgtcctttatagcaaaaggatcccattctaat c.*780
. . . . . . g.100749
ccatggcttgtatttagttgttgtatctgttagatctttcagtctggaacagttcctcag c.*840
. . . . . . g.100809
tctttccttgaccttcatgaccttgaatattttgaagagtaaagtctggtaatataagaa c.*900
. . . . . . g.100869
tgtccctcaattgggtttcatggtgattagatttagattatatgattttttggcaggagt c.*960
. . . . . . g.100929
atcacagaagtgacccagtgatcttctcattgcatcttacctgtgaccctacagttttga c.*1020
. . . . . . g.100989
tttgccctgttactggtaatgttagcattgatcactaacagtggtatctgctgaatttct c.*1080
. . . . . . g.101049
cctctgtaatgttattttttcaccttgtggttaattagtattttacagggaggtaatttg c.*1140
. . . . . . g.101109
agactatgtacatatctctactccccatcgaaccctcaatttattcatttgcttgtatca c.*1200
. . . . . . g.101169
aataaaccatggattcatggtttattttattcagtgagttataattcattaatattgtta c.*1260
. . . . . . g.101229
ttaaaaatttgtttttcttttaagaaatgttatattttgacaacttcagacttacagaaa c.*1320
. . . . . . g.101289
gattataagaggtagtacaaataatttttggatattattccccaaatgttaacattttac c.*1380
. . . . . . g.101349
tgcatttactttatcctttctcccccttctcctcctgtctttctagatgaatatgaatat c.*1440
. . . g.101383
aggtacttaatacagattttttttctaaactgtt c.*1474
(downstream sequence)
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