Canonical Allele Identifier: CA2690286351

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700528-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700531del , CM000671.2:g.72700531del	GRCh38
NC_000009.11:g.75315447del , CM000671.1:g.75315447del	GRCh37
NC_000009.10:g.74505267del	NCBI36
NG_008213.1:g.183731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.250del MANE Select	ENSP00000297784.6:p.Ile84LeufsTer9
ENST00000644967.1:c.-77+5817del	ENSP00000496159.1:n.-77+5817del
ENST00000645053.1:c.-77+5817del	ENSP00000493838.1:n.-77+5817del
ENST00000645208.2:c.250del	ENSP00000494684.1:p.Ile84LeufsTer9
ENST00000645773.1:c.236+5817del	ENSP00000493698.1:n.236+5817del
ENST00000645787.1:n.290del
ENST00000646244.1:n.700del
ENST00000646619.1:c.-77+5817del	ENSP00000493726.1:n.-77+5817del
ENST00000650689.1:n.660+5817del
ENST00000651183.1:c.-77+5817del	ENSP00000498723.1:n.-77+5817del
ENST00000297784.9:c.250del	ENSP00000297784.5:p.Ile84LeufsTer9
ENST00000340019.4:c.250del	ENSP00000341433.3:p.Ile84LeufsTer9
NM_138691.2:c.250del	NP_619636.2:p.Ile84LeufsTer9
XM_011518213.1:c.838del	XP_011516515.1:p.Ile280LeufsTer9
XM_017014256.1:c.253del	XP_016869745.1:p.Ile85LeufsTer9
NM_138691.3:c.250del MANE Select	NP_619636.2:p.Ile84LeufsTer9