Canonical Allele Identifier: CA1855120821

Gene: TMC1

Linked Data

• dbSNP Id: rs1828867021
• gnomAD v4: 9-72821168-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72821174del , CM000671.2:g.72821174del	GRCh38
NC_000009.11:g.75436090del , CM000671.1:g.75436090del	GRCh37
NC_000009.10:g.74625910del	NCBI36
NG_008213.1:g.304374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.2003+93del MANE Select	ENSP00000297784.6:n.2003+93del
ENST00000644967.1:c.*443+93del	ENSP00000496159.1:n.*443+93del
ENST00000645053.1:c.1258-5695del	ENSP00000493838.1:n.1258-5695del
ENST00000645208.2:c.2003+93del	ENSP00000494684.1:n.2003+93del
ENST00000645773.1:c.1877+93del	ENSP00000493698.1:n.1877+93del
ENST00000645787.1:n.2146+93del
ENST00000646619.1:c.1565+93del	ENSP00000493726.1:n.1565+93del
ENST00000651183.1:c.1565+93del	ENSP00000498723.1:n.1565+93del
ENST00000297784.9:c.2003+93del	ENSP00000297784.5:n.2003+93del
ENST00000340019.4:c.2003+93del	ENSP00000341433.3:n.2003+93del
ENST00000469455.1:n.484+93del
ENST00000486417.5:n.901+93del
NM_138691.2:c.2003+93del	NP_619636.2:n.2003+93del
XM_011518213.1:c.2591+93del	XP_011516515.1:n.2591+93del
XM_017014256.1:c.2006+93del	XP_016869745.1:n.2006+93del
NM_138691.3:c.2003+93del MANE Select	NP_619636.2:n.2003+93del