Canonical Allele Identifier: CA10581505
Gene: TMC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 236042
ClinVar RCV Id: RCV000225099
dbSNP Id: rs878853230
MyVariant Identifiers: chr9:g.75309623del (hg19) chr9:g.72694707del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72694707del , CM000671.2:g.72694707del GRCh38
NC_000009.11:g.75309623del , CM000671.1:g.75309623del GRCh37
NC_000009.10:g.74499443del NCBI36
NG_008213.1:g.177907del

Transcript Alleles

HGVS Amino-acid change
ENST00000297784.10:c.229del MANE Select ENSP00000297784.6:p.Arg77GlufsTer16
ENST00000644967.1:c.-84del ENSP00000496159.1:n.-84del
ENST00000645053.1:c.-84del ENSP00000493838.1:n.-84del
ENST00000645208.2:c.229del ENSP00000494684.1:p.Arg77GlufsTer16
ENST00000645773.1:c.229del ENSP00000493698.1:p.Arg77GlufsTer9
ENST00000645787.1:n.269del
ENST00000646244.1:n.679del
ENST00000646619.1:c.-84del ENSP00000493726.1:n.-84del
ENST00000650689.1:n.653del
ENST00000651183.1:c.-84del ENSP00000498723.1:n.-84del
ENST00000297784.9:c.229del ENSP00000297784.5:p.Arg77GlufsTer16
ENST00000340019.4:c.229del ENSP00000341433.3:p.Arg77GlufsTer16
NM_138691.2:c.229del NP_619636.2:p.Arg77GlufsTer16
XM_011518213.1:c.817del XP_011516515.1:p.Arg273GlufsTer16
XM_017014256.1:c.232del XP_016869745.1:p.Arg78GlufsTer16
NM_138691.3:c.229del MANE Select NP_619636.2:p.Arg77GlufsTer16
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