(used for variant description)
(last modified November 29, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_017777.3 in the MKS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering MKS1 transcript NM_017777.3.
(upstream sequence)
. . . . . g.5357
ccgatccagcgtctccgttgccaggaaaacagagcggcgcgctttccggcgcagtcg c.-2341
. . . . . . g.5417
cggcgcgtcgcagctgtcatggcggagaccgtctggagcactgacaccggggaggcagtg c.-2281
. . . . | 02. . g.5898
tatcgctcccgggaccccgtgcgcaacttgcgcctccg | agtccacctgcaaagaatcaca c.-2221
. . . . . . g.5958
tcaagcaactttcttcattatcagcctgctgccgagctcgggaaggacctcatagacttg c.-2161
. . . | 03. . . g.7901
gccacttttaggcctcagccaactgcca | gtggacaccgcccagaggaagacgaagaggag c.-2101
. . . . | 04 . g.8383
gagattgtgattgggtggcaggagaagctctttagccag | tttgaagtagatctgtaccaa c.-2041
. . . . . . g.8443
aatgaaacagcctgtcagagtcctttggattatcagtaccgtcaggagatcctgaagctg c.-1981
. . . . . . g.8503
gagaattcgggtggcaagaaaaaccgacgaatctttacctacactgactctgatagatac c.-1921
. . | 05 . . . . g.9812
accaatttggaggag | cactgtcagagaatgaccactgcagccagcgaggtgccttcattc c.-1861
. . . . . . | 06 g.10225
ttggtcgagcgaatggcaaatgtcaggcgtcgccggcaggacaggcgagggat | ggagggc c.-1801
. . . . . . g.10285
ggcatcctcaagtcacgcatcgtcacctgggagccctcagaagagtttgtcaggaacaac c.-1741
. . . . . . g.10345
cacgtcattaacacccctcttcagacaatgcacatcatggcagacctggggccctataaa c.-1681
. | 07 . . . . . g.10794
aa | gcttggctataagaagtatgaacatgtcctgtgtactctgaaggtggatagcaatggt c.-1621
. . . . . | 08 . g.11528
gtgatcacagtaaagcctgacttcacgggcctcaaaggaccctacag | gattgagacggag c.-1561
. . . . . . g.11588
ggggagaagcaggagctgtggaaatatacgatcgacaatgtttccccccacgcacagccg c.-1501
. . . . | 09 . . g.12195
gaggaggaggagcgggaacggcgagtgttcaaggat | ctttatggccggcacaaggagtat c.-1441
. . . . | 10 . . g.13610
ctcagcagcctcgtaggcaccgactttgagatg | actgtcccaggtgccctccggctcttt c.-1381
. . | 11 . . . . g.13925
gtaaatggagaggtcg | tttcagcccaaggctatgagtatgacaatctctacgtccacttc c.-1321
. . . | 12 . . . g.16060
tttgtagaattgccaactgctc | actggtcaagcccagcattccagcagctctcaggagta c.-1261
. . . . | 13 . . g.16458
acacagacctgcaccaccaagtccctggcaatg | gacaaggtggctcacttctcctaccca c.-1201
. . . . . | 14 . g.16621
ttcacgtttgaagccttcttcctccatgaggatgaatcttctg | atgcactcccggagtgg c.-1141
. . . . . . g.16681
cctgtgctctactgtgaggtcctctcgctggacttctggcagaggtaccgtgtggaaggc c.-1081
. . . . | 15 . . g.17416
tatggggctgtggtgctgcctgccactccag | gctcacacaccctgacagtctccacgtgg c.-1021
. . . . . . g.17476
agacctgtggagcttggcacggtggctgagctgaggaggtttttcattggcggttctctg c.-961
. . . . . | 16 . g.18073
gaactggaggacctctcctatgtacggataccaggatccttcaag | ggggaacgcctgagc c.-901
. . . . . . g.18133
cgctttggactccgcacagagaccacaggcactgtcaccttccgcttgcactgtctgcag c.-841
. | 17. . . . . g.18277
cagtccag | ggccttcatggaatcgagctcccttcagaaaaggatgcggagtgtgttggac c.-781
. . . . . | 18 . g.18449
cgtctggaagggttcagccagcagagttccattcacaatgtgctag | aggccttccgtcga c.-721
. . . . . . g.18509
gcccggcgccgcatgcaggaggcccgggaaagcctcccgcaggacctagtgagcccctct c.-661
. . . . . . g.18569
ggaaccctggtctcctagctcacagcagccctggcccacagtgcaagaggacaagatggg c.-601
. . . . . . g.18629
ggatatctgaggccagtgctctcctgcctcttcgtctttctgattagagaccacgttggt c.-541
. . . . . . g.18689
ctgctgagaaccagaaaagctgggaaattcccggctggcccctctgcctagccttctgca c.-481
. . . . . . g.18749
gggtcttctccctaccctgtggaaataaagccagagaccctgtggccccccctttatatt c.-421
. . . . . . g.18809
tgcagccactgtcaatgggcatcacagcaaggcaggctttttgatctgaagctgtttggg c.-361
. . . . . . g.18869
gtgaccccatagtgagtctggccttgactcacttttctggcttgtctcacagtagcaggg c.-301
. . . . . . g.18929
gatctgctgttctccaccctttaaaaatggagcctttcatcttccaagaccaaagaagga c.-241
. . . . . . g.18989
aggaaggtggacggtgagagggtcttaaatccccagcctgtgagtctcagcctctttcca c.-181
. . . . . . g.19049
gggaagcctcattctactgcttggggcttgctgaggttgagatatgagttatttctgagt c.-121
. . . . . . g.19109
aagtgaaggctgaaggcagtgctgagtcctttctgctagctgggtggtatcttttactgt c.-61
. . . . . . g.19169
gtttttttgtttgtttgtttttttgttttttgttacataaaccccttttattttgactga c.-1
. . . . . . g.19229
CCGATCCAGCGTCTCCGTTGCCAGGAAAACAGAGCGGCGCGCTTTCCGGCGCAGTCGCGG c.60
P I Q R L R C Q E N R A A R F P A Q S R p.20
. . . . . . g.19289
CGCGTCGCAGCTGTCATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTAT c.120
R V A A V M A E T V W S T D T G E A V Y p.40
. . . | 19 . . . g.19349
CGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCG | AGTCCACCTGCAAAGAATCACATCA c.180
R S R D P V R N L R L R | V H L Q R I T S p.60
. . . . . . g.19409
AGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCC c.240
S N F L H Y Q P A A E L G K D L I D L A p.80
. . | 20 . . . . g.19469
ACTTTTAGGCCTCAGCCAACTGCCA | GTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAG c.300
T F R P Q P T A S | G H R P E E D E E E E p.100
. . . | 21 . . . g.19529
ATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAG | TTTGAAGTAGATCTGTACCAAAAT c.360
I V I G W Q E K L F S Q | F E V D L Y Q N p.120
. . . . . . g.19589
GAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAG c.420
E T A C Q S P L D Y Q Y R Q E I L K L E p.140
. . . . . . g.19649
AATTCGGGTGGCAAGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACC c.480
N S G G K K N R R I F T Y T D S D R Y T p.160
. | 22 . . . . . g.19709
AATTTGGAGGAG | CACTGTCAGAGAATGACCACTGCAGCCAGCGAGGTGCCTTCATTCTTG c.540
N L E E | H C Q R M T T A A S E V P S F L p.180
. . . . . | 23 . g.19769
GTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGAT | GGAGGGCGGC c.600
V E R M A N V R R R R Q D R R G M | E G G p.200
. . . . . . g.19829
ATCCTCAAGTCACGCATCGTCACCTGGGAGCCCTCAGAAGAGTTTGTCAGGAACAACCAC c.660
I L K S R I V T W E P S E E F V R N N H p.220
. . . . . | 24 g.19889
GTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGGGCCCTATAAAAA | G c.720
V I N T P L Q T M H I M A D L G P Y K K | p.240
. . . . . . g.19949
CTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTG c.780
L G Y K K Y E H V L C T L K V D S N G V p.260
. . . . | 25 . . g.20009
ATCACAGTAAAGCCTGACTTCACGGGCCTCAAAGGACCCTACAG | GATTGAGACGGAGGGG c.840
I T V K P D F T G L K G P Y R | I E T E G p.280
. . . . . . g.20069
GAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCACGCACAGCCGGAG c.900
E K Q E L W K Y T I D N V S P H A Q P E p.300
. . . | 26 . . . g.20129
GAGGAGGAGCGGGAACGGCGAGTGTTCAAGGAT | CTTTATGGCCGGCACAAGGAGTATCTC c.960
E E E R E R R V F K D | L Y G R H K E Y L p.320
. . . | 27 . . . g.20189
AGCAGCCTCGTAGGCACCGACTTTGAGATG | ACTGTCCCAGGTGCCCTCCGGCTCTTTGTA c.1020
S S L V G T D F E M | T V P G A L R L F V p.340
. | 28 . . . . . g.20249
AATGGAGAGGTCG | TTTCAGCCCAAGGCTATGAGTATGACAATCTCTACGTCCACTTCTTT c.1080
N G E V V | S A Q G Y E Y D N L Y V H F F p.360
. | 29 . . . . g.20309
GTAGAATTGCCAACTGCTC | ACTGGTCAAGCCCAGCATTCCAGCAGCTCTCAGGAGTAACA c.1140
V E L P T A H | W S S P A F Q Q L S G V T p.380
. . . | 30 . . . g.20369
CAGACCTGCACCACCAAGTCCCTGGCAATG | GACAAGGTGGCTCACTTCTCCTACCCATTC c.1200
Q T C T T K S L A M | D K V A H F S Y P F p.400
. . . . | 31 . . g.20429
ACGTTTGAAGCCTTCTTCCTCCATGAGGATGAATCTTCTG | ATGCACTCCCGGAGTGGCCT c.1260
T F E A F F L H E D E S S D | A L P E W P p.420
. . . . . . g.20489
GTGCTCTACTGTGAGGTCCTCTCGCTGGACTTCTGGCAGAGGTACCGTGTGGAAGGCTAT c.1320
V L Y C E V L S L D F W Q R Y R V E G Y p.440
. . | 32 . . . g.20549
GGGGCTGTGGTGCTGCCTGCCACTCCAG | GCTCACACACCCTGACAGTCTCCACGTGGAGA c.1380
G A V V L P A T P G | S H T L T V S T W R p.460
. . . . . . g.20609
CCTGTGGAGCTTGGCACGGTGGCTGAGCTGAGGAGGTTTTTCATTGGCGGTTCTCTGGAA c.1440
P V E L G T V A E L R R F F I G G S L E p.480
. . . . | 33 . . g.20669
CTGGAGGACCTCTCCTATGTACGGATACCAGGATCCTTCAAG | GGGGAACGCCTGAGCCGC c.1500
L E D L S Y V R I P G S F K | G E R L S R p.500
. . . . . . g.20729
TTTGGACTCCGCACAGAGACCACAGGCACTGTCACCTTCCGCTTGCACTGTCTGCAGCAG c.1560
F G L R T E T T G T V T F R L H C L Q Q p.520
| 34 . . . . . . g.20789
TCCAG | GGCCTTCATGGAATCGAGCTCCCTTCAGAAAAGGATGCGGAGTGTGTTGGACCGT c.1620
S R | A F M E S S S L Q K R M R S V L D R p.540
. . . . | 35 . . g.20849
CTGGAAGGGTTCAGCCAGCAGAGTTCCATTCACAATGTGCTAG | AGGCCTTCCGTCGAGCC c.1680
L E G F S Q Q S S I H N V L E | A F R R A p.560
. . . . . . g.20909
CGGCGCCGCATGCAGGAGGCCCGGGAAAGCCTCCCGCAGGACCTAGTGAGCCCCTCTGGA c.1740
R R R M Q E A R E S L P Q D L V S P S G p.580
. g.20924
ACCCTGGTCTCCTAG c.1755
T L V S X p.584
. . . . . . g.20984
ctcacagcagccctggcccacagtgcaagaggacaagatgggggatatctgaggccagtg c.*60
. . . . . . g.21044
ctctcctgcctcttcgtctttctgattagagaccacgttggtctgctgagaaccagaaaa c.*120
. . . . . . g.21104
gctgggaaattcccggctggcccctctgcctagccttctgcagggtcttctccctaccct c.*180
. . . . . . g.21164
gtggaaataaagccagagaccctgtggccccccctttatatttgcagccactgtcaatgg c.*240
. . . . . . g.21224
gcatcacagcaaggcaggctttttgatctgaagctgtttggggtgaccccatagtgagtc c.*300
. . . . . . g.21284
tggccttgactcacttttctggcttgtctcacagtagcaggggatctgctgttctccacc c.*360
. . . . . . g.21344
ctttaaaaatggagcctttcatcttccaagaccaaagaaggaaggaaggtggacggtgag c.*420
. . . . . . g.21404
agggtcttaaatccccagcctgtgagtctcagcctctttccagggaagcctcattctact c.*480
. . . . . . g.21464
gcttggggcttgctgaggttgagatatgagttatttctgagtaagtgaaggctgaaggca c.*540
. . . . . . g.21524
gtgctgagtcctttctgctagctgggtggtatcttttactgtgtttttttgtttgtttgt c.*600
. . . . g.21567
ttttttgttttttgttacataaaccccttttattttgactgat c.*643
(downstream sequence)
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