Canonical Allele Identifier: CA2690288387

Gene: TMC1

Linked Data

• gnomAD v4: 9-72791832-CAAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72791838_72791840del , CM000671.2:g.72791838_72791840del	GRCh38
NC_000009.11:g.75406754_75406756del , CM000671.1:g.75406754_75406756del	GRCh37
NC_000009.10:g.74596574_74596576del	NCBI36
NG_008213.1:g.275038_275040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.1225-48_1225-46del MANE Select	ENSP00000297784.6:n.1225-48_1225-46del
ENST00000644967.1:c.787-48_787-46del	ENSP00000496159.1:n.787-48_787-46del
ENST00000645053.1:c.787-48_787-46del	ENSP00000493838.1:n.787-48_787-46del
ENST00000645208.2:c.1225-48_1225-46del	ENSP00000494684.1:n.1225-48_1225-46del
ENST00000645773.1:c.1099-48_1099-46del	ENSP00000493698.1:n.1099-48_1099-46del
ENST00000645787.1:n.1265-48_1265-46del
ENST00000646619.1:c.787-48_787-46del	ENSP00000493726.1:n.787-48_787-46del
ENST00000650689.1:n.1523-48_1523-46del
ENST00000651183.1:c.787-48_787-46del	ENSP00000498723.1:n.787-48_787-46del
ENST00000297784.9:c.1225-48_1225-46del	ENSP00000297784.5:n.1225-48_1225-46del
ENST00000340019.4:c.1225-48_1225-46del	ENSP00000341433.3:n.1225-48_1225-46del
NM_138691.2:c.1225-48_1225-46del	NP_619636.2:n.1225-48_1225-46del
XM_011518213.1:c.1813-48_1813-46del	XP_011516515.1:n.1813-48_1813-46del
XM_017014256.1:c.1228-48_1228-46del	XP_016869745.1:n.1228-48_1228-46del
NM_138691.3:c.1225-48_1225-46del MANE Select	NP_619636.2:n.1225-48_1225-46del