Canonical Allele Identifier: CA465186595

Gene: TMC1

Linked Data

• dbSNP Id: rs1232502234
• gnomAD v3: 9-72816139-CT-C
• gnomAD v4: 9-72816139-CT-C
• MyVariant Identifiers: chr9:g.75431056del (hg19) ; chr9:g.72816140del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72816140del , CM000671.2:g.72816140del	GRCh38
NC_000009.11:g.75431056del , CM000671.1:g.75431056del	GRCh37
NC_000009.10:g.74620876del	NCBI36
NG_008213.1:g.299340del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1696-3del MANE Select	ENSP00000297784.6:n.1696-3del
ENST00000644967.1:c.1258-3del	ENSP00000496159.1:n.1258-3del
ENST00000645053.1:c.1257+10630del	ENSP00000493838.1:n.1257+10630del
ENST00000645208.2:c.1696-3del	ENSP00000494684.1:n.1696-3del
ENST00000645773.1:c.1570-3del	ENSP00000493698.1:n.1570-3del
ENST00000645787.1:n.1839-3del
ENST00000646619.1:c.1258-3del	ENSP00000493726.1:n.1258-3del
ENST00000651183.1:c.1258-3del	ENSP00000498723.1:n.1258-3del
ENST00000297784.9:c.1696-3del	ENSP00000297784.5:n.1696-3del
ENST00000340019.4:c.1696-3del	ENSP00000341433.3:n.1696-3del
ENST00000469455.1:n.177-3del
ENST00000486417.5:n.320-3del
NM_138691.2:c.1696-3del	NP_619636.2:n.1696-3del
XM_011518213.1:c.2284-3del	XP_011516515.1:n.2284-3del
XM_017014256.1:c.1699-3del	XP_016869745.1:n.1699-3del
NM_138691.3:c.1696-3del MANE Select	NP_619636.2:n.1696-3del