(used for variant description)
(last modified November 9, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_152722.4 in the HEPACAM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering HEPACAM transcript NM_152722.4.
(upstream sequence)
. . . . g.5046
gttaggtggagacagggtaggttgggacacaaagtccagttaagtg c.-361
. . . . . . g.5106
tgtgtcccagctcagtgctctgagcccagatcctcatctccctgggtagtgaggctcagc c.-301
. . . . . . g.5166
acagacaagcaaccaactgctgggctgccggtgccccccatgttggaacctgagttggag c.-241
. . . . . . g.5226
attatctcctaagcagatacctgcttccaaactggggatgtagggcttggaaactagaaa c.-181
. . . . . . g.5286
atgccaggtctgagggagaggaaagaacaagtccagcaatacacagagctctgtgtattc c.-121
. . . . . . g.5346
agagggaagttggcagggttgtgttcgggcagagaaactccgagtggtacaaaggggacg c.-61
. . . . . . g.5406
tgcccagagtggagaaatcatgctaattgtctgcactagagctggagaacgccacccaaa c.-1
. . . . . . g.5466
ATGAAGAGAGAAAGGGGAGCCCTGTCCAGAGCCTCCAGGGCCCTGCGCCTTGCTCCTTTT c.60
M K R E R G A L S R A S R A L R L A P F p.20
. . | 02 . . . . g.16378
GTCTACCTTCTTCTGATCCAGACAG | ACCCCCTGGAGGGGGTGAACATCACCAGCCCCGTG c.120
V Y L L L I Q T D | P L E G V N I T S P V p.40
. . . . . . g.16438
CGCCTGATCCATGGCACCGTGGGGAAGTCGGCTCTGCTTTCTGTGCAGTACAGCAGTACC c.180
R L I H G T V G K S A L L S V Q Y S S T p.60
. . . . . . g.16498
AGCAGCGACAGGCCTGTAGTGAAGTGGCAGCTGAAGCGGGACAAGCCAGTGACCGTGGTG c.240
S S D R P V V K W Q L K R D K P V T V V p.80
. . . . . . g.16558
CAGTCCATTGGCACAGAGGTCATCGGCACCCTGCGGCCTGACTATCGAGACCGTATCCGA c.300
Q S I G T E V I G T L R P D Y R D R I R p.100
. . . . . . g.16618
CTCTTTGAAAATGGCTCCCTGCTTCTCAGCGACCTGCAGCTGGCCGATGAGGGCACCTAT c.360
L F E N G S L L L S D L Q L A D E G T Y p.120
. . . . . . g.16678
GAGGTCGAGATCTCCATCACCGACGACACCTTCACTGGGGAGAAGACCATCAACCTTACT c.420
E V E I S I T D D T F T G E K T I N L T p.140
| 03. . . . . . g.17455
GTAGATG | TGCCCATTTCGAGGCCACAGGTGTTGGTGGCTTCAACCACTGTGCTGGAGCTC c.480
V D V | P I S R P Q V L V A S T T V L E L p.160
. . . . . . g.17515
AGCGAGGCCTTCACCTTGAACTGCTCACATGAGAATGGCACCAAGCCCAGCTACACCTGG c.540
S E A F T L N C S H E N G T K P S Y T W p.180
. . . . . . g.17575
CTGAAGGATGGCAAGCCCCTCCTCAATGACTCGAGAATGCTCCTGTCCCCCGACCAAAAG c.600
L K D G K P L L N D S R M L L S P D Q K p.200
. . . . . . g.17635
GTGCTCACCATCACCCGCGTGCTCATGGAGGATGACGACCTGTACAGCTGCATGGTGGAG c.660
V L T I T R V L M E D D D L Y S C M V E p.220
. . . . | 04 . g.17990
AACCCCATCAGCCAGGGCCGCAGCCTGCCTGTCAAGATCACCGTATACA | GAAGAAGCTCC c.720
N P I S Q G R S L P V K I T V Y R | R S S p.240
. . . . . . g.18050
CTTTACATCATCTTGTCTACAGGAGGCATCTTCCTCCTTGTGACCTTGGTGACAGTCTGT c.780
L Y I I L S T G G I F L L V T L V T V C p.260
. . | 05 . . . . g.18631
GCCTGCTGGAAACCCTCCAAAAG | GAAACAGAAGAAGCTAGAAAAGCAAAACTCCCTGGAA c.840
A C W K P S K R | K Q K K L E K Q N S L E p.280
. . . | 06. . . g.18977
TACATGGATCAGAATGATGACCGCCTGAAACCAGAAG | CAGACACCCTCCCTCGAAGTGGT c.900
Y M D Q N D D R L K P E A | D T L P R S G p.300
. . . . | 07 . g.19984
GAGCAGGAACGGAAGAACCCCATGGCACTCTATATCCTGAAGGACAAG | GACTCCCCGGAG c.960
E Q E R K N P M A L Y I L K D K | D S P E p.320
. . . . . . g.20044
ACCGAGGAGAACCCGGCCCCGGAGCCTCGAAGCGCGACGGAGCCCGGCCCGCCCGGCTAC c.1020
T E E N P A P E P R S A T E P G P P G Y p.340
. . . . . . g.20104
TCCGTGTCTCCCGCCGTGCCCGGCCGCTCGCCGGGGCTGCCCATCCGCTCTGCCCGCCGC c.1080
S V S P A V P G R S P G L P I R S A R R p.360
. . . . . . g.20164
TACCCGCGCTCCCCAGCGCGCTCCCCAGCCACCGGCCGGACACACTCGTCGCCGCCCAGG c.1140
Y P R S P A R S P A T G R T H S S P P R p.380
. . . . . . g.20224
GCCCCGAGCTCGCCCGGCCGCTCGCGCAGCGCCTCGCGCACACTGCGGACTGCGGGCGTG c.1200
A P S S P G R S R S A S R T L R T A G V p.400
. . . . . g.20275
CACATAATCCGCGAGCAAGACGAGGCCGGCCCGGTGGAGATCAGCGCCTGA c.1251
H I I R E Q D E A G P V E I S A X p.416
. . . . . . g.20335
gccgcctcgggatcccctgagaggcgcccgcggtctgcggccagtggcccgggggaaagc c.*60
. . . . . . g.20395
tggggctgggaagcccgggcgcggcgcgctggggacgaggggaggtcccgggggggcgct c.*120
. . . . . . g.20455
ggtgtctcgggtgtgaacgtgtatgagcatgcgcagacggaggcgggtgcgcggaggcgg c.*180
. . . . . . g.20515
cagtgttgatatggtgaaaccgggtcgcatttgcttccggtttactggctgtgtcctcac c.*240
. . . . . . g.20575
ttggtataggttgtgccctcttaggaccacatagattattacatttctggcccaataccc c.*300
. . . . . . g.20635
aaaagggttttatggaaactaacatcagtaacctaacccccgtgactatcctgtgctctt c.*360
. . . . . . g.20695
cctagggagctgtgttgtttcccacccaccacccttccctctgaacaaatgcctgagtgc c.*420
. . . . . . g.20755
tggggcactttttttttttttttttttttttttttttttgcaagttcagattagagaggc c.*480
. . . . . . g.20815
cactttcccagaatccacagctgcactaagctaaggagaagccagatgccggttactggg c.*540
. . . . . . g.20875
tgtgcaggggctgttctgagctggggggatcattgtgaaggccttcttccctgggcacct c.*600
. . . . . . g.20935
ggtacctggggacctacaaggtggtgagggaagggtacgagtacattccttttccctctg c.*660
. . . . . . g.20995
acctgggcgctagcaagggcaaagaacccgagcctgccagcttggcctcctcccacagcc c.*720
. . . . . . g.21055
tccctcggaggcatgccatgccaagcactctttctgtctctgttcatgaataaaagagat c.*780
. . . . . . g.21115
ggatgggcttattcttatagagaagtgaatttcacttactcccctggcccgaaaactaga c.*840
. . . . . . g.21175
ccaaatgaggaactgttttagctcatcaaactcatatattcctcctggcttccttacaaa c.*900
. . . . . . g.21235
acaagcctttcaaacaatcattgtcctcaggaaagttgttgagcttcctccagctgtgag c.*960
. . . . . . g.21295
aataagtcctaatctccagagaaatggtggggggaggaggaggcttattgcttcccagca c.*1020
. . . . . . g.21355
tttggggggaacatgatccaacccctggcctcctgccacccatctgccctgctcccacat c.*1080
. . . . . . g.21415
gctcaggtcccagggcacagaaaaagggcagactccctaatcacactaacatcaaaataa c.*1140
. . . . . . g.21475
agaggctgggccgctgtgtagccaggacatgcccatgccaccgcctattgaacagttcat c.*1200
. . . . . . g.21535
aggagtggcagtaatctactgtgtgaggagagagggcaattaaaaagctgaaagagaagg c.*1260
. . . . . . g.21595
aggccctctgtgtattccattccctcctccttaatgcctccaagggtccttgcatcccta c.*1320
. . . . . . g.21655
gtctcctaaactccagctctgattcgccatcaacccatggagcaattccaaggccccagt c.*1380
. . . . . . g.21715
tacccatcacctccacaccaggtcaagttttgtctcagccccaaaggcactgacatttct c.*1440
. . . . . . g.21775
agtttgccccctctgccctgaaccccacagcatgcctgtctcagctccctgtccctcggc c.*1500
. . . . . . g.21835
acttccccaggctcatttgagcaggtgtgccttcgcagctcccctaaacttcccaggtgc c.*1560
. . . . . . g.21895
ctcatccataatgagataatgcatgtaggggaaaagtttctcaagaaggtggaagaggca c.*1620
. . . . . . g.21955
gcaggacttggataaggagtacctgctggtcagccttgagatgcacaggtgaaggttagg c.*1680
. . . . . . g.22015
gtgagatgagaacatgccataccctggtgctgaatccctgaggggccagcttgccaggct c.*1740
. . . . . . g.22075
taagccaaatctgccttaaattgggggtggggaggggtaagtaaggaagtggggtttgtt c.*1800
. . . . . . g.22135
tttgtgttgttttcatcttcatctttgtattactagcatccagcagagtgcctagcacat c.*1860
. . g.22164
actggatgctcaataaacttttgatgaaa c.*1889
(downstream sequence)
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