Canonical Allele Identifier: CA2690288670

Gene: TMC1

Linked Data

• gnomAD v4: 9-72805526-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72805530del , CM000671.2:g.72805530del	GRCh38
NC_000009.11:g.75420446del , CM000671.1:g.75420446del	GRCh37
NC_000009.10:g.74610266del	NCBI36
NG_008213.1:g.288730del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1695+20del MANE Select	ENSP00000297784.6:n.1695+20del
ENST00000644967.1:c.1257+20del	ENSP00000496159.1:n.1257+20del
ENST00000645053.1:c.1257+20del	ENSP00000493838.1:n.1257+20del
ENST00000645208.2:c.1695+20del	ENSP00000494684.1:n.1695+20del
ENST00000645773.1:c.1569+20del	ENSP00000493698.1:n.1569+20del
ENST00000645787.1:n.1838+20del
ENST00000646619.1:c.1257+20del	ENSP00000493726.1:n.1257+20del
ENST00000651183.1:c.1257+20del	ENSP00000498723.1:n.1257+20del
ENST00000297784.9:c.1695+20del	ENSP00000297784.5:n.1695+20del
ENST00000340019.4:c.1695+20del	ENSP00000341433.3:n.1695+20del
ENST00000486417.5:n.319+20del
NM_138691.2:c.1695+20del	NP_619636.2:n.1695+20del
XM_011518213.1:c.2283+20del	XP_011516515.1:n.2283+20del
XM_017014256.1:c.1698+20del	XP_016869745.1:n.1698+20del
NM_138691.3:c.1695+20del MANE Select	NP_619636.2:n.1695+20del