Canonical Allele Identifier: CA2513501412

Gene: GJB1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223527_71223529del , CM000685.2:g.71223527_71223529del	GRCh38
NC_000023.10:g.70443377_70443379del , CM000685.1:g.70443377_70443379del	GRCh37
NC_000023.9:g.70360102_70360104del	NCBI36
NG_008357.1:g.13316_13318del , LRG_245:g.13316_13318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361726.7:c.-16-165_-16-163del MANE Select	ENSP00000354900.6:n.-16-165_-16-163del
ENST00000374029.2:c.-16-165_-16-163del	ENSP00000363141.1:n.-16-165_-16-163del
ENST00000447581.2:c.-16-165_-16-163del	ENSP00000407223.2:n.-16-165_-16-163del
ENST00000645009.2:c.-16-165_-16-163del	ENSP00000494142.2:n.-16-165_-16-163del
ENST00000646835.1:c.-16-165_-16-163del	ENSP00000494596.1:n.-16-165_-16-163del
ENST00000647424.1:c.-16-165_-16-163del	ENSP00000495960.1:n.-16-165_-16-163del
ENST00000674549.1:c.-16-165_-16-163del	ENSP00000502766.1:n.-16-165_-16-163del
ENST00000674844.1:c.-16-165_-16-163del	ENSP00000502556.1:n.-16-165_-16-163del
ENST00000675209.1:c.-16-165_-16-163del	ENSP00000501813.1:n.-16-165_-16-163del
ENST00000675368.1:c.-16-165_-16-163del	ENSP00000501757.1:n.-16-165_-16-163del
ENST00000675609.1:c.-16-165_-16-163del	ENSP00000501571.1:n.-16-165_-16-163del
ENST00000361726.6:c.-16-165_-16-163del	ENSP00000354900.6:n.-16-165_-16-163del
ENST00000374022.3:c.-16-165_-16-163del	ENSP00000363134.3:n.-16-165_-16-163del
ENST00000374029.1:c.-16-165_-16-163del	ENSP00000363141.1:n.-16-165_-16-163del
ENST00000447581.1:c.-16-165_-16-163del	ENSP00000407223.1:n.-16-165_-16-163del
NM_000166.5:c.-16-165_-16-163del	NP_000157.1:n.-16-165_-16-163del
NM_001097642.2:c.-16-165_-16-163del , LRG_245t1:c.-16-165_-16-163del	NP_001091111.1:n.-16-165_-16-163del
XM_011530907.1:c.-16-165_-16-163del	XP_011529209.1:n.-16-165_-16-163del
XM_011530907.2:c.-16-165_-16-163del	XP_011529209.1:n.-16-165_-16-163del
NM_000166.6:c.-16-165_-16-163del MANE Select	NP_000157.1:n.-16-165_-16-163del
NM_001097642.3:c.-16-165_-16-163del	NP_001091111.1:n.-16-165_-16-163del