Canonical Allele Identifier: CA2694031969

Gene: GJB1

Linked Data

• gnomAD v4: X-71223179-T-TTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71223181_71223182insCTG , CM000685.2:g.71223181_71223182insCTG	GRCh38
NC_000023.10:g.70443031_70443032insCTG , CM000685.1:g.70443031_70443032insCTG	GRCh37
NC_000023.9:g.70359756_70359757insCTG	NCBI36
NG_008357.1:g.12970_12971insCTG , LRG_245:g.12970_12971insCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000374029.2:c.-16-511_-16-510insCTG	ENSP00000363141.1:n.-16-511_-16-510insCTG...
ENST00000447581.2:c.-17+415_-17+416insCTG	ENSP00000407223.2:n.-17+415_-17+416insCTG...
ENST00000645009.2:c.-16-511_-16-510insCTG	ENSP00000494142.2:n.-16-511_-16-510insCTG...
ENST00000646835.1:c.-132-39_-132-38insCTG	ENSP00000494596.1:n.-132-39_-132-38insCTG...
ENST00000647424.1:c.-16-511_-16-510insCTG	ENSP00000495960.1:n.-16-511_-16-510insCTG...
ENST00000674549.1:c.-16-511_-16-510insCTG	ENSP00000502766.1:n.-16-511_-16-510insCTG...
ENST00000674844.1:c.-16-511_-16-510insCTG	ENSP00000502556.1:n.-16-511_-16-510insCTG...
ENST00000675209.1:c.-16-511_-16-510insCTG	ENSP00000501813.1:n.-16-511_-16-510insCTG...
ENST00000675368.1:c.-16-511_-16-510insCTG	ENSP00000501757.1:n.-16-511_-16-510insCTG...
ENST00000675609.1:c.-165-6_-165-5insCTG	ENSP00000501571.1:n.-165-6_-165-5insCTG
ENST00000374022.3:c.-16-511_-16-510insCTG	ENSP00000363134.3:n.-16-511_-16-510insCTG...
ENST00000374029.1:c.-16-511_-16-510insCTG	ENSP00000363141.1:n.-16-511_-16-510insCTG...
ENST00000447581.1:c.-17+415_-17+416insCTG	ENSP00000407223.1:n.-17+415_-17+416insCTG...
NM_001097642.2:c.-16-511_-16-510insCTG , LRG_245t1:c.-16-511_-16-510insCTG	NP_001091111.1:n.-16-511_-16-510insCTG
XM_011530907.1:c.-17+415_-17+416insCTG	XP_011529209.1:n.-17+415_-17+416insCTG
XM_011530907.2:c.-17+415_-17+416insCTG	XP_011529209.1:n.-17+415_-17+416insCTG
NM_001097642.3:c.-16-511_-16-510insCTG	NP_001091111.1:n.-16-511_-16-510insCTG