Canonical Allele Identifier: CA866646580

Gene: TMC1

Linked Data

• dbSNP Id: rs72200654
• gnomAD v3: 9-72700713-C-CATATATATATATAT
• gnomAD v4: 9-72700713-C-CATATATATATATAT
• MyVariant Identifiers: chr9:g.75315629_75315630insATATATATATATAT (hg19) ; chr9:g.72700713_72700714insATATATATATATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.72700731_72700744dup , CM000671.2:g.72700731_72700744dup	GRCh38
NC_000009.11:g.75315647_75315660dup , CM000671.1:g.75315647_75315660dup	GRCh37
NC_000009.10:g.74505467_74505480dup	NCBI36
NG_008213.1:g.183931_183944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297784.10:c.362+88_362+101dup MANE Select	ENSP00000297784.6:n.362+88_362+101dup
ENST00000644967.1:c.-77+6017_-77+6030dup	ENSP00000496159.1:n.-77+6017_-77+6030dup
ENST00000645053.1:c.-77+6017_-77+6030dup	ENSP00000493838.1:n.-77+6017_-77+6030dup
ENST00000645208.2:c.362+88_362+101dup	ENSP00000494684.1:n.362+88_362+101dup
ENST00000645773.1:c.236+6017_236+6030dup	ENSP00000493698.1:n.236+6017_236+6030dup
ENST00000645787.1:n.402+88_402+101dup
ENST00000646619.1:c.-77+6017_-77+6030dup	ENSP00000493726.1:n.-77+6017_-77+6030dup
ENST00000650689.1:n.660+6017_660+6030dup
ENST00000651183.1:c.-77+6017_-77+6030dup	ENSP00000498723.1:n.-77+6017_-77+6030dup
ENST00000297784.9:c.362+88_362+101dup	ENSP00000297784.5:n.362+88_362+101dup
ENST00000340019.4:c.362+88_362+101dup	ENSP00000341433.3:n.362+88_362+101dup
NM_138691.2:c.362+88_362+101dup	NP_619636.2:n.362+88_362+101dup
XM_011518213.1:c.950+88_950+101dup	XP_011516515.1:n.950+88_950+101dup
XM_017014256.1:c.365+88_365+101dup	XP_016869745.1:n.365+88_365+101dup
NM_138691.3:c.362+88_362+101dup MANE Select	NP_619636.2:n.362+88_362+101dup