Canonical Allele Identifier: CA2077139507

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189255_20189269delinsCCCCTTGATGAACTT , CM000675.2:g.20189255_20189269delinsCCCCTTGATGAACTT	GRCh38
NC_000013.10:g.20763394_20763408delinsCCCCTTGATGAACTT , CM000675.1:g.20763394_20763408delinsCCCCTTGATGAACTT	GRCh37
NC_000013.9:g.19661394_19661408delinsCCCCTTGATGAACTT	NCBI36
NG_008358.1:g.8707_8721delinsAAGTTCATCAAGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.313_327delinsAAGTTCATCAAGGGG	ENSP00000372295.1:p.Lys105=
ENST00000382848.5:c.313_327delinsAAGTTCATCAAGGGG MANE Select	ENSP00000372299.4:p.Lys105=
ENST00000382844.1:c.313_327delinsAAGTTCATCAAGGGG	ENSP00000372295.1:p.Lys105=
ENST00000382848.4:c.313_327delinsAAGTTCATCAAGGGG	ENSP00000372299.4:p.Lys105=
NM_004004.5:c.313_327delinsAAGTTCATCAAGGGG	NP_003995.2:p.Lys105=
XM_011535049.1:c.313_327delinsAAGTTCATCAAGGGG	XP_011533351.1:p.Lys105=
XM_011535049.2:c.313_327delinsAAGTTCATCAAGGGG	XP_011533351.1:p.Lys105=
NM_004004.6:c.313_327delinsAAGTTCATCAAGGGG MANE Select	NP_003995.2:p.Lys105=