Canonical Allele Identifier: CA2580086788

Gene: GJB2

Linked Data

• ClinVar Variation Id: 2030063
• ClinVar RCV Id: RCV002881135

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189122_20189129delinsGTCTTCTCT , CM000675.2:g.20189122_20189129delinsGTCTTCTCT	GRCh38
NC_000013.10:g.20763261_20763268delinsGTCTTCTCT , CM000675.1:g.20763261_20763268delinsGTCTTCTCT	GRCh37
NC_000013.9:g.19661261_19661268delinsGTCTTCTCT	NCBI36
NG_008358.1:g.8847_8854delinsAGAGAAGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382844.2:c.453_460delinsAGAGAAGAC	ENSP00000372295.1:p.Met151IlefsTer?
ENST00000382848.5:c.453_460delinsAGAGAAGAC MANE Select	ENSP00000372299.4:p.Met151IlefsTer?
ENST00000382844.1:c.453_460delinsAGAGAAGAC	ENSP00000372295.1:p.Met151IlefsTer?
ENST00000382848.4:c.453_460delinsAGAGAAGAC	ENSP00000372299.4:p.Met151IlefsTer?
NM_004004.5:c.453_460delinsAGAGAAGAC	NP_003995.2:p.Met151IlefsTer?
XM_011535049.1:c.453_460delinsAGAGAAGAC	XP_011533351.1:p.Met151IlefsTer?
XM_011535049.2:c.453_460delinsAGAGAAGAC	XP_011533351.1:p.Met151IlefsTer?
NM_004004.6:c.453_460delinsAGAGAAGAC MANE Select	NP_003995.2:p.Met151IlefsTer?