Canonical Allele Identifier: CA2077110181

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189595_20189596delinsCG , CM000675.2:g.20189595_20189596delinsCG	GRCh38
NC_000013.10:g.20763734_20763735delinsCG , CM000675.1:g.20763734_20763735delinsCG	GRCh37
NC_000013.9:g.19661734_19661735delinsCG	NCBI36
NG_008358.1:g.8380_8381delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.-15_-14delinsCG	ENSP00000372295.1:n.-15_-14delinsCG
ENST00000382848.5:c.-15_-14delinsCG MANE Select	ENSP00000372299.4:n.-15_-14delinsCG
ENST00000382844.1:c.-15_-14delinsCG	ENSP00000372295.1:n.-15_-14delinsCG
ENST00000382848.4:c.-15_-14delinsCG	ENSP00000372299.4:n.-15_-14delinsCG
NM_004004.5:c.-15_-14delinsCG	NP_003995.2:n.-15_-14delinsCG
XM_011535049.1:c.-15_-14delinsCG	XP_011533351.1:n.-15_-14delinsCG
XM_011535049.2:c.-15_-14delinsCG	XP_011533351.1:n.-15_-14delinsCG
NM_004004.6:c.-15_-14delinsCG MANE Select	NP_003995.2:n.-15_-14delinsCG