(used for variant description)
(last modified December 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_024867.3 in the SPEF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering SPEF2 transcript NM_024867.3.
(upstream sequence)
. . . . . g.5051
acgcttccatagcaaagggttgcccttggctacaggaggacgcgggctggc c.-61
. . . . . . g.5111
aggcttggttcctggcgagtttctaagcccccgcctgcggtctgaggcaccggctgaacc c.-1
. . . . . | 02 g.15575
ATGTCGGAGATCCTGTGCCAGTGGCTCAACAAGGAGTTGAAGGTGTCCCGGACCGTGA | GT c.60
M S E I L C Q W L N K E L K V S R T V S | p.20
. . . . . . g.15635
CCCAAGTCATTTGCAAAGGCATTTTCCAGTGGCTATCTACTTGGAGAAGTTCTACACAAG c.120
P K S F A K A F S S G Y L L G E V L H K p.40
. . . . | 03 . . g.28563
TTTGAACTTCAGGATGATTTTTCAGAATTTTTGGACAGCAG | GGTTTCAAGTGCCAAACTT c.180
F E L Q D D F S E F L D S R | V S S A K L p.60
. . . . . . g.28623
AATAATTTTTCTCGCTTGGAGCCAACACTTAACCTTCTGGGTGTGCAGTTTGATCAGAAT c.240
N N F S R L E P T L N L L G V Q F D Q N p.80
. . . . . . g.28683
GTGGCCCATGGCATCATCACAGAAAAGCCTGGGGTGGCAACAAAGCTGTTATATCAATTG c.300
V A H G I I T E K P G V A T K L L Y Q L p.100
. . . . . . g.28743
TACATTGCTCTTCAGAAAAAGAAGAAAAGTGGACTGACTGGAGTGGAGATGCAAACCATG c.360
Y I A L Q K K K K S G L T G V E M Q T M p.120
. . . . . | 04 . g.31474
CAACGTCTGACAAATTTAAGACTTCAAAACATGAAAAGTGATACTTTTCAAGAG | AGACTT c.420
Q R L T N L R L Q N M K S D T F Q E | R L p.140
. . . . . . g.31534
AGACACATGATACCACGTCAAACTGATTTCAATCTGATGCGGATTACATACAGGTTTCAA c.480
R H M I P R Q T D F N L M R I T Y R F Q p.160
. . . . . . g.31594
GAAAAATATAAACACGTGAAAGAAGATCTTGCCCATTTGCATTTTGAGAAACTTGAAAGA c.540
E K Y K H V K E D L A H L H F E K L E R p.180
. . . . | 05 . . g.33795
TTTCAAAAACTCAAGGAAGAGCAAAGATGTTTTGATATTGAAAAG | CAATACTTAAACAGA c.600
F Q K L K E E Q R C F D I E K | Q Y L N R p.200
. . . . . . g.33855
AGACGACAAAATGAAATAATGGCCAAAATCCAAGCAGCTATTATACAGATTCCTAAACCT c.660
R R Q N E I M A K I Q A A I I Q I P K P p.220
. . . . . . g.33915
GCATCAAATCGTACTTTGAAAGCACTCGAGGCCCAAAAAATGATGAAAAAGAAAAAAGAG c.720
A S N R T L K A L E A Q K M M K K K K E p.240
| 06 . . . . . . g.36528
GCAGAA | GATGTGGCTGATGAAATTAAGAAGTTCGAAGCATTAATAAAAAAGGATCTCCAA c.780
A E | D V A D E I K K F E A L I K K D L Q p.260
. | 07 . . . . . g.41702
GCAAAAGAAAG | TGCATCCAAGACTTCTTTAGATACAGCAGGCCAGACAACCACCGATTTG c.840
A K E S | A S K T S L D T A G Q T T T D L p.280
. . . . . . g.41762
TTAAATACTTACTCAGATGACGAGTACATTAAAAAAATCCAGAAGCGCCTTGAAGAAGAT c.900
L N T Y S D D E Y I K K I Q K R L E E D p.300
. . . . . . g.41822
GCTTTTGCACGAGAGCAAAGGGAGAAAAGACGGCGGAAATTGTTAATGGACCAGTTAATA c.960
A F A R E Q R E K R R R K L L M D Q L I p.320
. | 08 . . . . g.46174
GCCCACGAAGCACAAGAG | GAGGCTTATCGGGAGGAACAGCTGATTAACCGGCTGATGCGG c.1020
A H E A Q E | E A Y R E E Q L I N R L M R p.340
. . . . . . g.46234
CAGTCCCAGCAGGAGCGCAGGATTGCCGTGCAGCTCATGCATGTTCGGCATGAAAAGGAA c.1080
Q S Q Q E R R I A V Q L M H V R H E K E p.360
. . . . . . g.46294
GTTTTATGGCAAAACAGAATTTTCAGAGAAAAACAACATGAGGAAAGACGACTTAAAGAT c.1140
V L W Q N R I F R E K Q H E E R R L K D p.380
. . | 09. . . . g.54218
TTCCAGGATGCTCTTGATCGAGAAGCG | GCTTTGGCAAAACAAGCCAAGATTGACTTTGAA c.1200
F Q D A L D R E A | A L A K Q A K I D F E p.400
. . . . . . g.54278
GAACAATTCCTTAAAGAAAAGAGATTTCATGATCAGATTGCTGTGGAAAGAGCTCAAGCT c.1260
E Q F L K E K R F H D Q I A V E R A Q A p.420
. . . . . . g.54338
CGTTATGAAAAGCATTATTCAGTATGTGCAGAAATTTTGGATCAAATAGTTGATTTGTCC c.1320
R Y E K H Y S V C A E I L D Q I V D L S p.440
. . . | 10 . . . g.57197
ACTAAAGTGGCAGACTATCGAATGTTGACAAATAA | TCTGATTCCGTATAAGTTGATGCAT c.1380
T K V A D Y R M L T N N | L I P Y K L M H p.460
. . . . . . g.57257
GATTGGAAGGAACTATTTTTTAATGCAAAACCCATATATGAACAAGCCTCTGTTAAGACA c.1440
D W K E L F F N A K P I Y E Q A S V K T p.480
. . . . . . g.57317
CTACCTGCTAACCCCTCAAGAGAACAACTTACAGAACTGGAGAAAAGGGACTTGCTAGAT c.1500
L P A N P S R E Q L T E L E K R D L L D p.500
. . | 11 . . . . g.78186
ACCAATGATTATGAAGAATATAAG | AACATGGTTGGAGAGTGGGCCTTACCAGAAGAAATG c.1560
T N D Y E E Y K | N M V G E W A L P E E M p.520
. . . . . . g.78246
GTTGACAATTTACCACCCTCCAACAATTGCATACTGGGCCATATTCTTCACAGGCTAGCT c.1620
V D N L P P S N N C I L G H I L H R L A p.540
. . . . . . g.78306
GAAAAATCTCTTCCTCCTCGAGCGGAATCAACAACACCTGAATTACCTTCATTTGCTGTT c.1680
E K S L P P R A E S T T P E L P S F A V p.560
. . . . . . g.78366
AAAGGATGCTTATTGGGGAAAACATTAAGTGGAAAAACTACCATTTTAAGGTCTCTACAA c.1740
K G C L L G K T L S G K T T I L R S L Q p.580
| 12 . . . . . . g.79739
AAAG | ACTTTCCTATACAGATACTTTCTATTGACACTCTTGTCCAAGAAGCTATCCAAGCA c.1800
K D | F P I Q I L S I D T L V Q E A I Q A p.600
. . . . . . g.79799
TTTCATGACAATGAAAAAGTCAGTGAGGTTCTACCAATTCAGAAAAATGATGAAGAAGAT c.1860
F H D N E K V S E V L P I Q K N D E E D p.620
. . . | 13 . . g.81422
GCTCTACCAGTTCTGCAAGAGGAGATTAAAGAAAGCCAG | GATCCACAACATGTATTTTCA c.1920
A L P V L Q E E I K E S Q | D P Q H V F S p.640
. . . . . | 14 . g.82853
GCTGGTCCAGTTTCAGATGAAGTATTACCAGAAACAGAAGGTGAAACAATGCTTA | GTGCT c.1980
A G P V S D E V L P E T E G E T M L S | A p.660
. . . . . | 15. g.84806
AATGCTGATAAAACACCAAAAGCTGAAGAAGTCAAATCAAGTGATAGTTTCTTAAAA | CTC c.2040
N A D K T P K A E E V K S S D S F L K | L p.680
. . . . . . g.84866
ACTACACGTGCTCAGCTTGGTGCAAAATCAGAACAGTTGCTGAAGAAAGGAAAGAGCATT c.2100
T T R A Q L G A K S E Q L L K K G K S I p.700
. . . . | 16 . . g.87628
CCTGATGTGCTGCTTGTTGACATCATAGTAAATGCTATTAA | TGAGATACCTGTGAATCAA c.2160
P D V L L V D I I V N A I N | E I P V N Q p.720
. . . . . . g.87688
GACTGTATCCTAGATGGTTTTCCAATGACTTTAAACCAAGCACAGCTTCTGGAAGAAGCT c.2220
D C I L D G F P M T L N Q A Q L L E E A p.740
. . . . . . g.87748
CTTACAGGCTGCAATAGAAACCTCACAGAAGTGGAAAGAAAAAAAGCACAAAAATCCACA c.2280
L T G C N R N L T E V E R K K A Q K S T p.760
. . . . . . g.87808
TTGGCTATTGATCCTGCGACTTCCAAAGAAATACCTCTTCCCTCTCCTGCATTTGATTTT c.2340
L A I D P A T S K E I P L P S P A F D F p.780
. . . . . | 17 g.91669
GTCATATTATTAGATGTTTCAGATACTTCCTCAATGAGTCGCATGAATGATATTATAG | CT c.2400
V I L L D V S D T S S M S R M N D I I A | p.800
. . . . . . g.91729
GAAGAATTGTCCTATAAAACTGCTCACGAAGATATCAGTCAACGTGTAGCTGCTGAAAAC c.2460
E E L S Y K T A H E D I S Q R V A A E N p.820
. . . . | 18. . g.92777
CAAGATAAGGATGGAGACCAAAATTTAAGAGACCAGATACAACATAG | AATTATAGGCTTC c.2520
Q D K D G D Q N L R D Q I Q H R | I I G F p.840
. . . . . . g.92837
TTGGACAACTGGCCTTTATTGGAGCAATGGTTTTCAGAGCCAGAAAATATTTTGATAAAA c.2580
L D N W P L L E Q W F S E P E N I L I K p.860
. . . . . . g.92897
ATCAATGCTGAAATAGATAAGGAATCTTTATGTGAAAAAGTAAAAGAAATTCTTACGACT c.2640
I N A E I D K E S L C E K V K E I L T T p.880
. . | 19 . . . . g.96096
GAAATAGCAAAAAAAAAGAATAAAG | TTGAGAAGAAATTAGAAGAAAAGGAAGCTGAGAAA c.2700
E I A K K K N K V | E K K L E E K E A E K p.900
. . . . . . g.96156
AAAGCAGCAGCTTCCCTGGCTGAGCTTCCACTTCCTACACCTCCTCCTGCTCCTCCTCCT c.2760
K A A A S L A E L P L P T P P P A P P P p.920
. . . . . . g.96216
GAACCAGAAAAAGAGAAGGAAATTCATCAAAGCCATGTGGCTTCAAAAACTCCTACTGCA c.2820
E P E K E K E I H Q S H V A S K T P T A p.940
. | 20 . . . . g.99966
AAAGGAAAACCTCAATCAG | AAGCCCCGCATGGTAAGCAAGAATCTCTTCAGGAAGGAAAA c.2880
K G K P Q S E | A P H G K Q E S L Q E G K p.960
. . . | 21 . . . g.114814
GGGAAGAAAGGTGAGACCGCACTCAAAAGAAAAG | GTTCTCCTAAAGGAAAATCATCAGGA c.2940
G K K G E T A L K R K G | S P K G K S S G p.980
. . . . . . g.114874
GGAAAAGTACCAGTAAAGAAATCACCTGCTGACTCTACAGATACATCACCTGTTGCAATA c.3000
G K V P V K K S P A D S T D T S P V A I p.1000
. . . . . . g.114934
GTGCCACAGCCACCTAAGCCAGGATCAGAAGAATGGGTCTATGTGAATGAACCAGTTCCT c.3060
V P Q P P K P G S E E W V Y V N E P V P p.1020
| 22 . . . . . . g.127089
GAG | GAAATGCCTTTGTTTTTAGTACCTTACTGGGAACTAATAGAAAATTCCTATATAAAC c.3120
E | E M P L F L V P Y W E L I E N S Y I N p.1040
. . . . . . g.127149
ACCATCAAAACAGTACTCAGGCATCTGAGGGAAGACCAGCATACTGTGCTTGCTTACTTA c.3180
T I K T V L R H L R E D Q H T V L A Y L p.1060
. | 23 . . . . . g.127291
TATGAGATTAG | AACAAGTTTCCAGGAGTTTCTAAAGCGTCCGGATCACAAGCAAGATTTT c.3240
Y E I R | T S F Q E F L K R P D H K Q D F p.1080
. . . . . . g.127351
GTAGCTCAATGGCAGGCTGATTTCAACTCCCTTCCTGATGACCTGTGGGATGATGAGGAA c.3300
V A Q W Q A D F N S L P D D L W D D E E p.1100
. . . | 24 . . . g.140767
ACAAAGGCTGAACTACATCAACGAGTGAAT | GATCTGCGAGACCGCCTGTGGGACATTTGT c.3360
T K A E L H Q R V N | D L R D R L W D I C p.1120
. . . . . . g.140827
GATGCCCGGAAGGAAGAGGCGGAGCAGGAGCGGCTTGACATCATTAATGAGAGCTGGTTA c.3420
D A R K E E A E Q E R L D I I N E S W L p.1140
. . . . | 25 . g.146693
CAGGACACTCTTGGAATGACAATGAACCATTTCTTTTCCCTGATGCAG | GCAGAGCTGAAC c.3480
Q D T L G M T M N H F F S L M Q | A E L N p.1160
. . . . . . g.146753
CGTTTCCAAGATACAAAGAGACTCCTTCAAGATTATTACTGGGGAATGGAAAGTAAAATC c.3540
R F Q D T K R L L Q D Y Y W G M E S K I p.1180
. . . . . . g.146813
CCAGTAGAGGACAACAAGAGATTTACTCGAATCCCTTTGGTCCAACTGGATAGTAAAGAC c.3600
P V E D N K R F T R I P L V Q L D S K D p.1200
. . | 26 . . . . g.150675
AATTCTGAAAGCCAGCTTAG | AATTCCTCTAGTTCCTCGAATATCCATTTCTCTGGAAACA c.3660
N S E S Q L R | I P L V P R I S I S L E T p.1220
. . . . . . g.150735
GTTACACCCAAACCAAAAACAAAATCAGTACTGAAGGGCAAGATGGATAACTCCCTAGAA c.3720
V T P K P K T K S V L K G K M D N S L E p.1240
. . . . . . g.150795
AACGTTGAGTCCAACTTTGAGGCCGATGAAAAGTTGGTCATGGACACCTGGCAGCAGGCT c.3780
N V E S N F E A D E K L V M D T W Q Q A p.1260
. . | 27 . . . . g.158761
TCTTTAGCAGTATCTCACATG | GTGGCTGCTGAAATTCATCAGAGGCTTATGGAAGAAGAA c.3840
S L A V S H M | V A A E I H Q R L M E E E p.1280
. . . . . . g.158821
AAAGAAAACCAGCCAGCAGACCCCAAAGAAAAATCTCCTCAGATGGGTGCAAATAAAAAA c.3900
K E N Q P A D P K E K S P Q M G A N K K p.1300
. . . . | 28 . g.161017
GTCAAAAAGGAGCCACCCAAGAAAAAACAGGAAGACAAAAAACCCAAAG | GTAAATCACCA c.3960
V K K E P P K K K Q E D K K P K G | K S P p.1320
. . . . . . g.161077
CCTATGGCAGAAGCAACTCCTGTCATAGTAACAACAGAGGAAATTGCTGAAATCAAAAGG c.4020
P M A E A T P V I V T T E E I A E I K R p.1340
. . . . . | 29 g.163372
AAAAATGAACTGAGGGTCAAAATAAAAGAAGAACACCTTGCTGCCTTGCAATTTGAAG | AA c.4080
K N E L R V K I K E E H L A A L Q F E E | p.1360
. . . . . . g.163432
ATAGCCACGCAATTTCGACTTGAACTGATAAAGACAAAAGCATTGGCTCTTCTTGAAGAT c.4140
I A T Q F R L E L I K T K A L A L L E D p.1380
. . . . . . g.163492
TTAGTAACAAAGGTGGTTGATGTATATAAACTCATGGAAAAATGGCTTGGTGAGAGGTAT c.4200
L V T K V V D V Y K L M E K W L G E R Y p.1400
. | 30. . . . . g.166273
TTGAATGAAATGGCCAG | TACAGAAAAATTAACTGACGTAGCTCGCTATCACATTGAAACA c.4260
L N E M A S | T E K L T D V A R Y H I E T p.1420
. . . . . . g.166333
TCTACAAAAATTCAGAATGAACTTTATTTAAGCCAAGAAGACTTCTTCATTAATGGCAAT c.4320
S T K I Q N E L Y L S Q E D F F I N G N p.1440
. . . . . . g.166393
ATAAAAGTCTTCCCAGATCCTCCCCCATCAATACGTCCTCCACCTGTAGAAAAGGAAGAA c.4380
I K V F P D P P P S I R P P P V E K E E p.1460
. . . . . . g.166453
GATGGTACCCTGACCATTGAACAGCTTGACAGTCTTCGAGATCAGTTCTTAGATATGGCA c.4440
D G T L T I E Q L D S L R D Q F L D M A p.1480
| 31. . . . . . g.179506
CCTAAAG | GCATAATAGGAAATAAAGCATTTACTGACATTCTGATCGATTTGGTGACCCTG c.4500
P K G | I I G N K A F T D I L I D L V T L p.1500
. . . . . | 32 . g.180278
AACCTTGGCACAAACAACTTTCCTAGTAATTGGATGCACCTTACCCAACCTGAA | TTACAG c.4560
N L G T N N F P S N W M H L T Q P E | L Q p.1520
. . . . . . g.180338
GAATTAACATCTTTATTAACAGTCAACTCCGAGTTCGTGGACTGGCGGAAGTTCCTGTTA c.4620
E L T S L L T V N S E F V D W R K F L L p.1540
. . . . . . g.180398
GTAACCTCAATGCCTTGGCCCATTCCCTTGGAGGAGGAGCTCCTTGAGACCCTTCAGAAG c.4680
V T S M P W P I P L E E E L L E T L Q K p.1560
. . . . . | 33. g.182819
TTCAAGGCTGTGGATAAGGAGCAGTTGGGCACCATCACTTTTGAGCAGTATATGCAG | GCT c.4740
F K A V D K E Q L G T I T F E Q Y M Q | A p.1580
. . . . . . g.182879
GGTCTGTGGTTTACAGGAGATGAAGATATAAAAATTCCAGAAAATCCTCTTGAACCCCTT c.4800
G L W F T G D E D I K I P E N P L E P L p.1600
. . . | 34 . . . g.187111
CCATTTAATAGGCAGGAGCATCTTATAGAG | TTTTTCTTTAGGCTATTTGCTGACTATGAG c.4860
P F N R Q E H L I E | F F F R L F A D Y E p.1620
. . . . . . g.187171
AAGGATCCACCCCAGCTTGACTACACACAGATGCTGCTTTACTTTGCTTGCCACCCAGAC c.4920
K D P P Q L D Y T Q M L L Y F A C H P D p.1640
. . . . . . g.187231
ACCGTGGAAGGAGTCTACAGGGCCCTCAGTGTGGCTGTTGGAACTCATGTCTTCCAACAA c.4980
T V E G V Y R A L S V A V G T H V F Q Q p.1660
. . . | 35 . . . g.193850
GTCAAAGCTTCCATTCCAAGTGCAGAAAAG | ACCTCCTCAACTGATGCAGGTCCAGCTGAG c.5040
V K A S I P S A E K | T S S T D A G P A E p.1680
. . . . . . g.193910
GAATTTCCTGAACCTGAGGAAAATGCTGCAAGAGAAGAAAGGAAATTAAAAGACGACACG c.5100
E F P E P E E N A A R E E R K L K D D T p.1700
. . . . . . g.193970
GAGAAAAGGGAACAGAAGGATGAAGAAATCCCTGAAAATGCAAACAATGAAAAGATGTCC c.5160
E K R E Q K D E E I P E N A N N E K M S p.1720
. . . . . . g.194030
ATGGAAACACTACTCAAAGTGTTCAAAGGGGGAAGTGAAGCACAGGACTCCAATAGATTT c.5220
M E T L L K V F K G G S E A Q D S N R F p.1740
. . . | 36 . . . g.194268
GCCAGCCACCTAAAGATAGAGAACATTTATGCAGAG | GGCTTCATAAAAACATTTCAAGAC c.5280
A S H L K I E N I Y A E | G F I K T F Q D p.1760
. . . . . . g.194328
CTAGGTGCCAAGAACCTGGAGCCAATTGAAGTCGCTGTTCTCTTGAAGCATCCTTTTATT c.5340
L G A K N L E P I E V A V L L K H P F I p.1780
. . . | 37 . . g.201598
CAAGACCTGATTTCAAATTATTCAGACTATAAGTTTCCT | GATATTAAAATAATTCTCCAA c.5400
Q D L I S N Y S D Y K F P | D I K I I L Q p.1800
. . . . . . g.201658
AGGAGTGAACATGTACAAGGAAGTGATGGAGAGAGATCACCTTCAAGACATACAGAGGAA c.5460
R S E H V Q G S D G E R S P S R H T E E p.1820
g.201667
AAGAAATGA c.5469
K K X p.1822
. . . . . g.201725
agacaaaagagtgtgatttttttaattctgcaataaatcttccaaaaattaaatgtga c.*58
(downstream sequence)
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