Canonical Allele Identifier: CA193350014
Gene: TMC1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.72700282dup , CM000671.2:g.72700282dup GRCh38
NC_000009.11:g.75315198dup , CM000671.1:g.75315198dup GRCh37
NC_000009.10:g.74505018dup NCBI36
NG_008213.1:g.183482dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297784.10:c.237-236dup MANE Select ENSP00000297784.6:n.237-236dup
ENST00000644967.1:c.-77+5568dup ENSP00000496159.1:n.-77+5568dup
ENST00000645053.1:c.-77+5568dup ENSP00000493838.1:n.-77+5568dup
ENST00000645208.2:c.237-236dup ENSP00000494684.1:n.237-236dup
ENST00000645773.1:c.236+5568dup ENSP00000493698.1:n.236+5568dup
ENST00000645787.1:n.277-236dup
ENST00000646244.1:n.687-236dup
ENST00000646619.1:c.-77+5568dup ENSP00000493726.1:n.-77+5568dup
ENST00000650689.1:n.660+5568dup
ENST00000651183.1:c.-77+5568dup ENSP00000498723.1:n.-77+5568dup
ENST00000297784.9:c.237-236dup ENSP00000297784.5:n.237-236dup
ENST00000340019.4:c.237-236dup ENSP00000341433.3:n.237-236dup
NM_138691.2:c.237-236dup NP_619636.2:n.237-236dup
XM_011518213.1:c.825-236dup XP_011516515.1:n.825-236dup
XM_017014256.1:c.240-236dup XP_016869745.1:n.240-236dup
NM_138691.3:c.237-236dup MANE Select NP_619636.2:n.237-236dup