Canonical Allele Identifier: CA2574049962

Gene: GJA5

Linked Data

• ClinVar Variation Id: 2933262
• ClinVar RCV Id: RCV003790380
• gnomAD v4: 1-147758705-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758707del , CM000663.2:g.147758707del	GRCh38
NC_000001.10:g.147230815del , CM000663.1:g.147230815del	GRCh37
NC_000001.9:g.145697439del	NCBI36
NG_009369.2:g.19669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.533del MANE Select	ENSP00000463851.1:p.Phe178SerfsTer2
ENST00000430508.1:c.533del	ENSP00000407645.1:p.Phe178SerfsTer2
ENST00000579774.2:c.533del	ENSP00000463851.1:p.Phe178SerfsTer2
ENST00000621517.1:c.533del	ENSP00000484552.1:p.Phe178SerfsTer2
NM_005266.6:c.533del	NP_005257.2:p.Phe178SerfsTer2
NM_181703.3:c.533del	NP_859054.1:p.Phe178SerfsTer2
XM_005272951.3:c.533del	XP_005273008.1:p.Phe178SerfsTer2
XM_011509415.1:c.533del	XP_011507717.1:p.Phe178SerfsTer2
XR_922078.1:n.434-18854del
XR_922079.1:n.434-18854del
XM_005272951.4:c.533del	XP_005273008.1:p.Phe178SerfsTer2
XM_017001044.1:c.533del	XP_016856533.1:p.Phe178SerfsTer2
XR_922079.3:n.744-18854del
NM_181703.4:c.533del MANE Select	NP_859054.1:p.Phe178SerfsTer2
NM_005266.7:c.533del	NP_005257.2:p.Phe178SerfsTer2