Canonical Allele Identifier: CA526263002

Gene: GJA5

Linked Data

• ClinVar Variation Id: 2943295
• ClinVar RCV Id: RCV003800413
• dbSNP Id: rs1553226904
• gnomAD v2: 1-147230646-ATCT-A
• gnomAD v3: 1-147758538-ATCT-A
• gnomAD v4: 1-147758538-ATCT-A
• MyVariant Identifiers: chr1:g.147230647_147230649del (hg19) ; chr1:g.147758539_147758541del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147758544_147758546del , CM000663.2:g.147758544_147758546del	GRCh38
NC_000001.10:g.147230652_147230654del , CM000663.1:g.147230652_147230654del	GRCh37
NC_000001.9:g.145697276_145697278del	NCBI36
NG_009369.2:g.19834_19836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579774.3:c.698_700del MANE Select	ENSP00000463851.1:p.Lys233del
ENST00000430508.1:c.698_700del	ENSP00000407645.1:p.Lys233del
ENST00000579774.2:c.698_700del	ENSP00000463851.1:p.Lys233del
ENST00000621517.1:c.698_700del	ENSP00000484552.1:p.Lys233del
NM_005266.6:c.698_700del	NP_005257.2:p.Lys233del
NM_181703.3:c.698_700del	NP_859054.1:p.Lys233del
XM_005272951.3:c.698_700del	XP_005273008.1:p.Lys233del
XM_011509415.1:c.698_700del	XP_011507717.1:p.Lys233del
XR_922078.1:n.434-19017_434-19015del
XR_922079.1:n.434-19017_434-19015del
XM_005272951.4:c.698_700del	XP_005273008.1:p.Lys233del
XM_017001044.1:c.698_700del	XP_016856533.1:p.Lys233del
XR_922079.3:n.744-19017_744-19015del
NM_181703.4:c.698_700del MANE Select	NP_859054.1:p.Lys233del
NM_005266.7:c.698_700del	NP_005257.2:p.Lys233del