Canonical Allele Identifier: CA5081553
Gene: TMC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236041
ClinVar RCV Id: RCV000225071
dbSNP Id: rs878853229
ExAC: 9:75263573 C / CA
gnomAD v2: 9-75263573-C-CA
gnomAD v4: 9-72648657-C-CA
MyVariant Identifiers: chr9:g.75263579dupA (hg19) chr9:g.75263573_75263574insA (hg19) chr9:g.72648663dupA (hg38) chr9:g.72648657_72648658insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72648663dup , CM000671.2:g.72648663dup GRCh38
NC_000009.11:g.75263579dup , CM000671.1:g.75263579dup GRCh37
NC_000009.10:g.74453399dup NCBI36
NG_008213.1:g.131863dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.15dup MANE Select ENSP00000297784.6:p.Val6SerfsTer13
ENST00000644967.1:c.-297+20600dup ENSP00000496159.1:n.-297+20600dup
ENST00000645053.1:c.-297+20600dup ENSP00000493838.1:n.-297+20600dup
ENST00000645208.2:c.15dup ENSP00000494684.1:p.Val6SerfsTer13
ENST00000645773.1:c.15dup ENSP00000493698.1:p.Val6SerfsTer13
ENST00000645787.1:n.44+20600dup
ENST00000646244.1:n.466+20600dup
ENST00000646619.1:c.-297+20600dup ENSP00000493726.1:n.-297+20600dup
ENST00000650689.1:n.440+20600dup
ENST00000651183.1:c.-297+32186dup ENSP00000498723.1:n.-297+32186dup
ENST00000651743.1:n.557dup
ENST00000297784.9:c.15dup ENSP00000297784.5:p.Val6SerfsTer13
ENST00000340019.4:c.15dup ENSP00000341433.3:p.Val6SerfsTer13
ENST00000492418.1:n.106dup
NM_138691.2:c.15dup NP_619636.2:p.Val6SerfsTer13
XM_011518213.1:c.604+20600dup XP_011516515.1:n.604+20600dup
XM_017014256.1:c.19+32186dup XP_016869745.1:n.19+32186dup
NM_138691.3:c.15dup MANE Select NP_619636.2:p.Val6SerfsTer13
Search 100 bp 5'
Search 100 bp 3'