Canonical Allele Identifier: CA2695217727

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20189538_20189551del , CM000675.2:g.20189538_20189551del	GRCh38
NC_000013.10:g.20763677_20763690del , CM000675.1:g.20763677_20763690del	GRCh37
NC_000013.9:g.19661677_19661690del	NCBI36
NG_008358.1:g.8425_8438del

Transcript Alleles

HGVS	Amino-acid change
ENST00000382844.2:c.31_44del	ENSP00000372295.1:p.Gly11ThrfsTer?
ENST00000382848.5:c.31_44del MANE Select	ENSP00000372299.4:p.Gly11ThrfsTer?
ENST00000382844.1:c.31_44del	ENSP00000372295.1:p.Gly11ThrfsTer?
ENST00000382848.4:c.31_44del	ENSP00000372299.4:p.Gly11ThrfsTer?
NM_004004.5:c.31_44del	NP_003995.2:p.Gly11ThrfsTer?
XM_011535049.1:c.31_44del	XP_011533351.1:p.Gly11ThrfsTer?
XM_011535049.2:c.31_44del	XP_011533351.1:p.Gly11ThrfsTer?
NM_004004.6:c.31_44del MANE Select	NP_003995.2:p.Gly11ThrfsTer?