Canonical Allele Identifier: CA2690288403

Gene: TMC1

Linked Data

• gnomAD v4: 9-72791926-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791927del , CM000671.2:g.72791927del	GRCh38
NC_000009.11:g.75406843del , CM000671.1:g.75406843del	GRCh37
NC_000009.10:g.74596663del	NCBI36
NG_008213.1:g.275127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1266del MANE Select	ENSP00000297784.6:p.Leu423CysfsTer8
ENST00000644967.1:c.828del	ENSP00000496159.1:p.Leu277CysfsTer8
ENST00000645053.1:c.828del	ENSP00000493838.1:p.Leu277CysfsTer8
ENST00000645208.2:c.1266del	ENSP00000494684.1:p.Leu423CysfsTer8
ENST00000645773.1:c.1140del	ENSP00000493698.1:p.Leu381CysfsTer8
ENST00000645787.1:n.1306del
ENST00000646619.1:c.828del	ENSP00000493726.1:p.Leu277CysfsTer8
ENST00000650689.1:n.1564del
ENST00000651183.1:c.828del	ENSP00000498723.1:p.Leu277CysfsTer8
ENST00000297784.9:c.1266del	ENSP00000297784.5:p.Leu423CysfsTer8
ENST00000340019.4:c.1266del	ENSP00000341433.3:p.Leu423CysfsTer8
NM_138691.2:c.1266del	NP_619636.2:p.Leu423CysfsTer8
XM_011518213.1:c.1854del	XP_011516515.1:p.Leu619CysfsTer8
XM_017014256.1:c.1269del	XP_016869745.1:p.Leu424CysfsTer8
NM_138691.3:c.1266del MANE Select	NP_619636.2:p.Leu423CysfsTer8