Canonical Allele Identifier: CA2555695674

Gene: GJB1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223299_71223405del , CM000685.2:g.71223299_71223405del	GRCh38
NC_000023.10:g.70443149_70443255del , CM000685.1:g.70443149_70443255del	GRCh37
NC_000023.9:g.70359874_70359980del	NCBI36
NG_008357.1:g.13088_13194del , LRG_245:g.13088_13194del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361726.7:c.-53_-17+70del
ENST00000374029.2:c.-16-393_-16-287del	ENSP00000363141.1:n.-16-393_-16-287del
ENST00000447581.2:c.-16-393_-16-287del	ENSP00000407223.2:n.-16-393_-16-287del
ENST00000645009.2:c.-16-393_-16-287del	ENSP00000494142.2:n.-16-393_-16-287del
ENST00000646835.1:c.-53_-17+70del
ENST00000647424.1:c.-16-393_-16-287del	ENSP00000495960.1:n.-16-393_-16-287del
ENST00000674549.1:c.-16-393_-16-287del	ENSP00000502766.1:n.-16-393_-16-287del
ENST00000674844.1:c.-16-393_-16-287del	ENSP00000502556.1:n.-16-393_-16-287del
ENST00000675209.1:c.-16-393_-16-287del	ENSP00000501813.1:n.-16-393_-16-287del
ENST00000675368.1:c.-16-393_-16-287del	ENSP00000501757.1:n.-16-393_-16-287del
ENST00000675609.1:c.-53_-17+70del
ENST00000361726.6:c.-53_-17+70del
ENST00000374022.3:c.-16-393_-16-287del	ENSP00000363134.3:n.-16-393_-16-287del
ENST00000374029.1:c.-16-393_-16-287del	ENSP00000363141.1:n.-16-393_-16-287del
ENST00000447581.1:c.-16-393_-16-287del	ENSP00000407223.1:n.-16-393_-16-287del
NM_000166.5:c.-53_-17+70del
NM_001097642.2:c.-16-393_-16-287del , LRG_245t1:c.-16-393_-16-287del	NP_001091111.1:n.-16-393_-16-287del
XM_011530907.1:c.-16-393_-16-287del	XP_011529209.1:n.-16-393_-16-287del
XM_011530907.2:c.-16-393_-16-287del	XP_011529209.1:n.-16-393_-16-287del
NM_000166.6:c.-53_-17+70del
NM_001097642.3:c.-16-393_-16-287del	NP_001091111.1:n.-16-393_-16-287del