Canonical Allele Identifier: CA2644771118

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794124-C-CAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794124_34794125insAGGG , CM000663.2:g.34794124_34794125insAGGG	GRCh38
NC_000001.10:g.35259725_35259726insAGGG , CM000663.1:g.35259725_35259726insAGGG	GRCh37
NC_000001.9:g.35032312_35032313insAGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-73_-17-72insAGGG (GJA4) MANE Select	ENSP00000343676.4:n.-17-73_-17-72insAGGG
ENST00000342280.4:c.-17-73_-17-72insAGGG (GJA4)	ENSP00000343676.4:n.-17-73_-17-72insAGGG
ENST00000426886.1:c.207+61646_207+61647insCCCT (SMIM12)	ENSP00000429902.1:n.207+61646_207+61647insCCCT
ENST00000450137.1:c.-90_-89insAGGG (GJA4)	ENSP00000409186.1:n.-90_-89insAGGG
NM_002060.2:c.-17-73_-17-72insAGGG (GJA4)	NP_002051.2:n.-17-73_-17-72insAGGG
XM_005270750.1:c.-90_-89insAGGG (GJA4)	XP_005270807.1:n.-90_-89insAGGG
XR_947179.1:n.1001+4246_1001+4247insCCCT
XM_005270750.2:c.-90_-89insAGGG (GJA4)	XP_005270807.1:n.-90_-89insAGGG
XM_017001043.2:c.-17-73_-17-72insAGGG (GJA4)	XP_016856532.1:n.-17-73_-17-72insAGGG
XR_001737967.1:n.1023+4246_1023+4247insCCCT
NM_002060.3:c.-17-73_-17-72insAGGG (GJA4) MANE Select	NP_002051.2:n.-17-73_-17-72insAGGG