Canonical Allele Identifier: CA2690286420

Gene: TMC1

Linked Data

• gnomAD v4: 9-72700713-CATATATATATATATATATAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700725_72700744del , CM000671.2:g.72700725_72700744del	GRCh38
NC_000009.11:g.75315641_75315660del , CM000671.1:g.75315641_75315660del	GRCh37
NC_000009.10:g.74505461_74505480del	NCBI36
NG_008213.1:g.183925_183944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.362+82_362+101del MANE Select	ENSP00000297784.6:n.362+82_362+101del
ENST00000644967.1:c.-77+6011_-77+6030del	ENSP00000496159.1:n.-77+6011_-77+6030del
ENST00000645053.1:c.-77+6011_-77+6030del	ENSP00000493838.1:n.-77+6011_-77+6030del
ENST00000645208.2:c.362+82_362+101del	ENSP00000494684.1:n.362+82_362+101del
ENST00000645773.1:c.236+6011_236+6030del	ENSP00000493698.1:n.236+6011_236+6030del
ENST00000645787.1:n.402+82_402+101del
ENST00000646619.1:c.-77+6011_-77+6030del	ENSP00000493726.1:n.-77+6011_-77+6030del
ENST00000650689.1:n.660+6011_660+6030del
ENST00000651183.1:c.-77+6011_-77+6030del	ENSP00000498723.1:n.-77+6011_-77+6030del
ENST00000297784.9:c.362+82_362+101del	ENSP00000297784.5:n.362+82_362+101del
ENST00000340019.4:c.362+82_362+101del	ENSP00000341433.3:n.362+82_362+101del
NM_138691.2:c.362+82_362+101del	NP_619636.2:n.362+82_362+101del
XM_011518213.1:c.950+82_950+101del	XP_011516515.1:n.950+82_950+101del
XM_017014256.1:c.365+82_365+101del	XP_016869745.1:n.365+82_365+101del
NM_138691.3:c.362+82_362+101del MANE Select	NP_619636.2:n.362+82_362+101del