(used for variant description)
(last modified October 29, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_024753.4 in the TTC21B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering TTC21B transcript NM_024753.4.
(upstream sequence)
. g.5013
gcgaccccgcccc c.-121
. . . . . . g.5073
tcccgctggggcccggggcgctagagcgctccgggaggctaggggagctgaattctgcgt c.-61
. . . . . . g.5133
cttcctttaggctgcggcgagacaatccccagagccccgcggcccggcctcggggcagcc c.-1
. . | 02 . . . . g.9153
ATGGACTCGCAGGAATTGAAG | ACTTTGATTAATTACTATTGTCAAGAGAGATATTTCCAT c.60
M D S Q E L K | T L I N Y Y C Q E R Y F H p.20
. . . . . . g.9213
CATGTATTACTGGTTGCCAGTGAAGGAATTAAGAGGTATGGAAGTGATCCAGTCTTCAGG c.120
H V L L V A S E G I K R Y G S D P V F R p.40
. . . | 03 . . . g.9363
TTTTATCATGCCTATGGCACATTAATGGAAG | GTAAAACTCAAGAAGCTCTTCGAGAATTT c.180
F Y H A Y G T L M E G | K T Q E A L R E F p.60
. . . . . . g.9423
GAGGCTATTAAAAATAAACAAGATGTATCACTTTGTTCTCTACTTGCACTGATATATGCC c.240
E A I K N K Q D V S L C S L L A L I Y A p.80
. . | 04 . . . . g.13186
CATAAAATGAGTCCTAATCCAG | ATAGAGAAGCTATTCTGGAATCAGATGCCAGAGTGAAG c.300
H K M S P N P D | R E A I L E S D A R V K p.100
. . . . . . g.13246
GAACAACGTAAAGGAGCTGGAGAGAAAGCCTTATACCATGCAGGCTTATTTTTATGGCAC c.360
E Q R K G A G E K A L Y H A G L F L W H p.120
. . . . . . g.13306
ATTGGTCGCCATGATAAAGCAAGGGAATATATTGACAGAATGATCAAAATATCAGATGGT c.420
I G R H D K A R E Y I D R M I K I S D G p.140
| 05 . . . . . g.15548
AGTAAACAG | GGACACGTTTTGAAAGCATGGCTTGATATTACAAGAGGAAAAGAGCCTTAC c.480
S K Q | G H V L K A W L D I T R G K E P Y p.160
. . . . . . g.15608
ACTAAAAAAGCACTGAAGTATTTTGAAGAGGGACTCCAAGATGGGAATGATACTTTTGCT c.540
T K K A L K Y F E E G L Q D G N D T F A p.180
. | 06 . . . . . g.17702
CTGCTGGGTAAG | GCACAATGCCTTGAGATGCGCCAGAATTATTCAGGTGCCCTGGAGACT c.600
L L G K | A Q C L E M R Q N Y S G A L E T p.200
. . . . . . g.17762
GTGAACCAGATAATCGTGAATTTTCCGAGCTTCCTTCCTGCTTTTGTTAAGAAAATGAAA c.660
V N Q I I V N F P S F L P A F V K K M K p.220
. . . . . | 07 . g.25791
TTACAACTAGCCTTGCAGGATTGGGACCAGACAGTTGAGACAGCACAAAG | GTTGCTGCTC c.720
L Q L A L Q D W D Q T V E T A Q R | L L L p.240
. . . . . . g.25851
CAAGATAGCCAAAATGTGGAAGCACTGAGAATGCAGGCACTCTACTATGTGTGTAGAGAG c.780
Q D S Q N V E A L R M Q A L Y Y V C R E p.260
. | 08 . . . . . g.27027
GGGGATATAGAGAAG | GCTTCCACCAAGCTGGAAAACTTGGGAAATACATTGGATGCCATG c.840
G D I E K | A S T K L E N L G N T L D A M p.280
. . . . . | 09 . g.28480
GAACCACAGAATGCTCAACTTTTCTATAACATTACACTCGCCTTCAGCAGAACT | TGTGGA c.900
E P Q N A Q L F Y N I T L A F S R T | C G p.300
. . . . . . g.28540
CGTAGTCAACTTATTCTTCAAAAAATTCAAACGTTACTTGAGAGAGCTTTTAGTTTAAAC c.960
R S Q L I L Q K I Q T L L E R A F S L N p.320
. . . . . . g.28600
CCTCAGCAATCAGAATTTGCTACAGAACTTGGATACCAAATGATTTTACAAGGAAGAGTT c.1020
P Q Q S E F A T E L G Y Q M I L Q G R V p.340
. . . . . . g.28660
AAAGAGGCACTGAAGTGGTATAAGACCGCCATGACACTTGATGAGACTAGTGTGTCTGCC c.1080
K E A L K W Y K T A M T L D E T S V S A p.360
| 10. . . . . . g.29144
CTAGTTG | GATTTATCCAATGTCAGTTGATAGAAGGGCAATTACAGGATGCAGATCAGCAG c.1140
L V G | F I Q C Q L I E G Q L Q D A D Q Q p.380
. . . . | 11 . . g.29518
CTAGAATTTTTAAATGAAATCCAGCAATCCATTGGAAAATCTGCG | GAATTAATCTATTTA c.1200
L E F L N E I Q Q S I G K S A | E L I Y L p.400
. . . . . . g.29578
CATGCAGTTCTTGCCATGAAGAAAAATAAACGACAAGAAGAAGTTATTAATTTGTTAAAT c.1260
H A V L A M K K N K R Q E E V I N L L N p.420
. . . . . . g.29638
GATGTCCTGGACACTCACTTTTCACAATTAGAAGGTTTGCCTCTTGGCATACAGTATTTT c.1320
D V L D T H F S Q L E G L P L G I Q Y F p.440
. . . . . . g.29698
GAAAAGCTAAATCCTGATTTCTTGTTAGAAATTGTTATGGAGTATCTGAGCTTCTGTCCA c.1380
E K L N P D F L L E I V M E Y L S F C P p.460
| 12 . . . . . . g.34214
ATGCAG | CCTGCAAGTCCTGGGCAACCTCTTTGTCCACTTCTCAGGCGTTGCATCTCAGTC c.1440
M Q | P A S P G Q P L C P L L R R C I S V p.480
. . . . . . g.34274
CTGGAGACTGTAGTAAGAACTGTTCCAGGTCTTCTGCAAACAGTCTTCCTAATAGCAAAA c.1500
L E T V V R T V P G L L Q T V F L I A K p.500
. | 13 . . . . . g.39449
GTGAAATATTTGTCAG | GTGATATTGAAGCAGCTTTCAATAACCTTCAGCACTGCTTAGAA c.1560
V K Y L S G | D I E A A F N N L Q H C L E p.520
. . . . . . g.39509
CACAATCCCTCTTATGCTGATGCTCATCTGCTGCTAGCTCAGGTTTACTTGTCTCAAGAA c.1620
H N P S Y A D A H L L L A Q V Y L S Q E p.540
. . . . . | 14 . g.41363
AAAGTCAAATTGTGTTCTCAGTCTCTTGAACTTTGTCTGAGCTATGATTTTAAG | GTGAGA c.1680
K V K L C S Q S L E L C L S Y D F K | V R p.560
. . . . . . g.41423
GACTATCCTTTATACCATTTGATAAAAGCTCAGTCACAAAAGAAAATGGGAGAAATAGCA c.1740
D Y P L Y H L I K A Q S Q K K M G E I A p.580
. . . . . . g.41483
GACGCAATTAAAACACTGCATATGGCAATGAGTTTACCAGGAATGAAAAGAATTGGAGCT c.1800
D A I K T L H M A M S L P G M K R I G A p.600
. . . . . . g.41543
TCCACAAAATCAAAAGACAGAAAAACTGAAGTTGATACAAGCCATCGTTTATCGATCTTT c.1860
S T K S K D R K T E V D T S H R L S I F p.620
. . . | 15 . . g.43420
CTTGAATTGATAGACGTTCACCGCTTAAATGGAGAGCAG | CATGAGGCAACCAAAGTTTTA c.1920
L E L I D V H R L N G E Q | H E A T K V L p.640
. . . . . . g.43480
CAAGATGCCATCCATGAATTTTCTGGAACATCTGAAGAAGTGCGGGTTACCATTGCTAAT c.1980
Q D A I H E F S G T S E E V R V T I A N p.660
. . . . . . g.43540
GCAGACCTTGCTCTAGCCCAAGGAGATATTGAACGGGCTTTAAGCATCCTTCAGAATGTT c.2040
A D L A L A Q G D I E R A L S I L Q N V p.680
. . . . . . g.43600
ACAGCCGAACAGCCTTATTTTATAGAGGCCAGAGAAAAAATGGCAGATATTTATCTGAAG c.2100
T A E Q P Y F I E A R E K M A D I Y L K p.700
. . . | 16 . . g.45214
CACAGAAAAGATAAAATGTTATATATCACTTGTTTTAG | AGAAATTGCTGAAAGAATGGCT c.2160
H R K D K M L Y I T C F R | E I A E R M A p.720
. . . . . | 17 . g.46223
AACCCTCGGTCTTTTCTTCTCCTTGGTGATGCATACATGAATATTCTAGAG | CCTGAAGAA c.2220
N P R S F L L L G D A Y M N I L E | P E E p.740
. . . . . . g.46283
GCCATAGTAGCATATGAGCAAGCATTAAATCAGAACCCGAAAGATGGAACATTGGCAAGC c.2280
A I V A Y E Q A L N Q N P K D G T L A S p.760
. . . . | 18 . . g.47391
AAAATGGGCAAAGCACTTATCAAAACTCATAACTACTCAATG | GCAATCACTTACTATGAA c.2340
K M G K A L I K T H N Y S M | A I T Y Y E p.780
. . . . . . g.47451
GCTGCTCTGAAAACTGGACAAAAGAATTATCTTTGCTATGACCTGGCTGAGCTCTTATTA c.2400
A A L K T G Q K N Y L C Y D L A E L L L p.800
. . . . . . g.47511
AAATTGAAATGGTATGACAAAGCAGAAAAAGTTCTTCAGCATGCTCTGGCTCATGAACCT c.2460
K L K W Y D K A E K V L Q H A L A H E P p.820
| 19 . . . . . . g.51113
G | TAAATGAACTGTCAGCTCTCATGGAGGATGGACGTTGTCAAGTTCTTCTAGCAAAAGTT c.2520
V | N E L S A L M E D G R C Q V L L A K V p.840
. . . . | 20 . g.56940
TATAGTAAAATGGAAAAACTTGGTGATGCGATCACTGCATTACAACAG | GCTCGAGAATTA c.2580
Y S K M E K L G D A I T A L Q Q | A R E L p.860
. . . . . . g.57000
CAAGCTCGGGTACTAAAACGTGTTCAGATGGAACAGCCAGATGCAGTTCCTGCACAGAAA c.2640
Q A R V L K R V Q M E Q P D A V P A Q K p.880
. . . . . . g.57060
CATTTAGCAGCTGAAATTTGTGCAGAGATTGCAAAACATTCTGTTGCTCAGCGAGACTAT c.2700
H L A A E I C A E I A K H S V A Q R D Y p.900
. . . . . | 21. g.58961
GAAAAAGCAATTAAGTTTTATAGAGAGGCTCTGGTTCACTGCGAAACAGATAATAAG | ATT c.2760
E K A I K F Y R E A L V H C E T D N K | I p.920
. . . . . . g.59021
ATGTTGGAACTGGCACGATTATACCTGGCACAAGATGACCCTGATTCCTGCCTGCGGCAG c.2820
M L E L A R L Y L A Q D D P D S C L R Q p.940
. . . . | 22 . g.60083
TGTGCTCTACTGCTTCAGAGTGACCAGGATAACGAAGCTGCTACCATG | ATGATGGCTGAT c.2880
C A L L L Q S D Q D N E A A T M | M M A D p.960
. . . . . . g.60143
CTCATGTTCAGAAAACAAGACTATGAACAAGCAGTGTTTCATTTACAGCAGCTTTTAGAA c.2940
L M F R K Q D Y E Q A V F H L Q Q L L E p.980
. | 23 . . . . . g.67900
CGTAAGCCAG | ATAATTATATGACATTATCTCGTTTGATTGATCTCCTAAGAAGATGTGGA c.3000
R K P D | N Y M T L S R L I D L L R R C G p.1000
. . . . . . g.67960
AAACTCGAGGATGTCCCAAGATTTTTCTCAATGGCTGAGAAACGTAACTCCAGAGCAAAA c.3060
K L E D V P R F F S M A E K R N S R A K p.1020
. . . . | 24 . . g.68217
TTGGAACCAGGATTTCAGTATTGTAAAGGACTGTATCTTTG | GTACACTGGAGAACCAAAT c.3120
L E P G F Q Y C K G L Y L W | Y T G E P N p.1040
. . . . . . g.68277
GATGCCCTTCGACATTTTAATAAAGCTCGGAAAGATCGTGACTGGGGCCAAAATGCCCTT c.3180
D A L R H F N K A R K D R D W G Q N A L p.1060
. . . . . . g.68337
TATAATATGATAGAGATCTGTTTGAATCCAGATAATGAAACTGTTGGAGGTGAAGTATTT c.3240
Y N M I E I C L N P D N E T V G G E V F p.1080
. . | 25 . . . . g.70401
GAAAACCTGGATGGAGACCTGGG | TAATTCAACTGAGAAGCAAGAATCTGTGCAACTGGCA c.3300
E N L D G D L G | N S T E K Q E S V Q L A p.1100
. . . . . . g.70461
GTAAGAACAGCAGAAAAACTTCTTAAGGAACTAAAACCTCAGACTGTTCAGGGTCACGTA c.3360
V R T A E K L L K E L K P Q T V Q G H V p.1120
. . . . . . g.70521
CAGCTTCGCATAATGGAAAACTATTGCTTAATGGCTACCAAACAGAAATCTAATGTTGAA c.3420
Q L R I M E N Y C L M A T K Q K S N V E p.1140
. . . | 26 . . g.74841
CAAGCATTAAATACCTTCACTGAAATAGCAGCATCTGAG | AAGGAGCATATCCCAGCGCTC c.3480
Q A L N T F T E I A A S E | K E H I P A L p.1160
. . . . . . g.74901
TTGGGAATGGCAACGGCTTATATGATCTTGAAACAGACTCCACGAGCCAGAAACCAGCTG c.3540
L G M A T A Y M I L K Q T P R A R N Q L p.1180
. . . . . . g.74961
AAGCGTATTGCGAAAATGAATTGGAATGCTATTGATGCTGAAGAGTTTGAGAAGAGTTGG c.3600
K R I A K M N W N A I D A E E F E K S W p.1200
. . . . . . g.75021
CTGCTACTTGCTGATATTTACATTCAATCAGCAAAATATGACATGGCAGAAGACCTGTTA c.3660
L L L A D I Y I Q S A K Y D M A E D L L p.1220
. . | 27 . . . . g.78075
AAACGGTGCCTGCGTCATAATAGA | TCTTGCTGCAAAGCTTATGAATATATGGGATACATT c.3720
K R C L R H N R | S C C K A Y E Y M G Y I p.1240
. . . . . . g.78135
ATGGAAAAAGAGCAAGCATATACAGATGCTGCCTTGAACTATGAGATGGCATGGAAATAT c.3780
M E K E Q A Y T D A A L N Y E M A W K Y p.1260
. . | 28 . . . . g.82641
AGCAATCGGACAAATCCGGCAGTAG | GATACAAACTGGCATTTAATTACTTAAAAGCAAAA c.3840
S N R T N P A V G | Y K L A F N Y L K A K p.1280
. . . | 29 . . . g.84033
AGATATGTGGATTCAATTGACATATGTCACCAG | GTTCTTGAAGCACATCCAACTTATCCA c.3900
R Y V D S I D I C H Q | V L E A H P T Y P p.1300
. . . . . g.84084
AAAATCAGAAAGGATATACTTGATAAGGCCCGTGCGTCTTTAAGACCTTGA c.3951
K I R K D I L D K A R A S L R P X p.1316
. . . . . . g.84144
aaataattttaacttaggtgttggtttaacaggaaatgaaagaaatctaactttcagttc c.*60
. . . . . . g.84204
ttcctgttcaaaacaggtttgagctcagtgctttgttattagaagtatacccttttttct c.*120
. . . . . . g.84264
ccagcagaggttgctgctgtacatcaagagaagtactatgtgaaattggtgtttcctaat c.*180
. . . . . . g.84324
ggagttgaatgagagctggtctatttgactctgttttgattgggtacagatttggtgact c.*240
. . . . . . g.84384
ctgtggtaaagactataattatttctataaagaatattttgttaaaatctaggtaattaa c.*300
. . . . . . g.84444
ataccctgtatcttttctaaggaatattatttcaggaaatatatttaaaatgcattgttc c.*360
. . . . . . g.84504
tcttttaaagtgtttttgttatattcttttatttatttatttatttttaaagacagagcc c.*420
. . . . . . g.84564
ttgatctgccgcccaggctggagtgcagtggcacgatcttggctcactgcaacctccgcc c.*480
. . . . . . g.84624
tcctgggtttacgcgattctcctgcttcagcctcccgagtagctgggactaaaggcatgt c.*540
. . . . . . g.84684
gccatcacacccggctaattttttgtatttttagtagagatgggatttcaccgtgttagc c.*600
. . . . . . g.84744
caggaggggcttgatctcttgaccttgtgatccacctgcctcggcctcccaaagtgctgg c.*660
. . . . . . g.84804
gattacaggcatgagccaccgcacccagcctgtttttgttgtattctgtgttgtttcaaa c.*720
. . . . . . g.84864
aattggaataaatctccctgtaaataactcatgaaaaagacaatatatatattttaaata c.*780
. . . . . . g.84924
tatattttaataaaggttttataaatagatgatttatattcctcttggaactcaaaagat c.*840
. . . . . . g.84984
gtggtaagttttgcaaatcagggtaagctccccctgcattctgtaatgttaatgggtggt c.*900
. . . . . . g.85044
ggtatagtacagaaaatgtaactttcattgaaaaatcttttttagaaaagggtagagtgt c.*960
. . . . . . g.85104
gtgtttccctttcctttcttgagctcattcttcctgctttcaaggccattgtggtcttaa c.*1020
. . . . . . g.85164
gaaataatcaggtcctgaaacctcaatttaaataggtcccttattagggatatttaacct c.*1080
. . . . . . g.85224
tagcctagaagacttggtctgcaggtataatttcagacactgtaacatttgatggtaaag c.*1140
. . . . . . g.85284
ggtgaccaaatacttttggtcagcagggagtcacaaagcacaccatgtgaaggcaacggt c.*1200
. . . . . . g.85344
ttacccagctctgtttaacagcaccctggcatagaagctttcactctcttacactaaatt c.*1260
. . . . . . g.85404
taacctaatctaaacttaatccttagcattatttttaatttctcatctacatctttttca c.*1320
. . . . . . g.85464
attttccttaaaattgtagtaaacacagtcctcaattttatttgcatttacaataaacag c.*1380
. g.85477
tatttataagtca c.*1393
(downstream sequence)
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