Canonical Allele Identifier: CA2690286164

Gene: TMC1

Linked Data

• gnomAD v4: 9-72694616-A-AGATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72694617_72694621dup , CM000671.2:g.72694617_72694621dup	GRCh38
NC_000009.11:g.75309533_75309537dup , CM000671.1:g.75309533_75309537dup	GRCh37
NC_000009.10:g.74499353_74499357dup	NCBI36
NG_008213.1:g.177817_177821dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000297784.10:c.139_143dup MANE Select	ENSP00000297784.6:p.Ile49MetfsTer29
ENST00000644967.1:c.-174_-170dup	ENSP00000496159.1:n.-174_-170dup
ENST00000645053.1:c.-174_-170dup	ENSP00000493838.1:n.-174_-170dup
ENST00000645208.2:c.139_143dup	ENSP00000494684.1:p.Ile49MetfsTer29
ENST00000645773.1:c.139_143dup	ENSP00000493698.1:p.Ile49MetfsTer29
ENST00000645787.1:n.179_183dup
ENST00000646244.1:n.589_593dup
ENST00000646619.1:c.-174_-170dup	ENSP00000493726.1:n.-174_-170dup
ENST00000650689.1:n.563_567dup
ENST00000651183.1:c.-174_-170dup	ENSP00000498723.1:n.-174_-170dup
ENST00000297784.9:c.139_143dup	ENSP00000297784.5:p.Ile49MetfsTer29
ENST00000340019.4:c.139_143dup	ENSP00000341433.3:p.Ile49MetfsTer29
NM_138691.2:c.139_143dup	NP_619636.2:p.Ile49MetfsTer29
XM_011518213.1:c.727_731dup	XP_011516515.1:p.Ile245MetfsTer29
XM_017014256.1:c.142_146dup	XP_016869745.1:p.Ile50MetfsTer29
NM_138691.3:c.139_143dup MANE Select	NP_619636.2:p.Ile49MetfsTer29