Canonical Allele Identifier: CA1162036839

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794114_34794116delinsTGG , CM000663.2:g.34794114_34794116delinsTGG	GRCh38
NC_000001.10:g.35259715_35259717delinsTGG , CM000663.1:g.35259715_35259717delinsTGG	GRCh37
NC_000001.9:g.35032302_35032304delinsTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-83_-17-81delinsTGG (GJA4) MANE Select	ENSP00000343676.4:n.-17-83_-17-81delinsTGG
ENST00000342280.4:c.-17-83_-17-81delinsTGG (GJA4)	ENSP00000343676.4:n.-17-83_-17-81delinsTGG
ENST00000426886.1:c.207+61655_207+61657delinsCCA (SMIM12)	ENSP00000429902.1:n.207+61655_207+61657delinsCCA
ENST00000450137.1:c.-100_-98delinsTGG (GJA4)	ENSP00000409186.1:n.-100_-98delinsTGG
NM_002060.2:c.-17-83_-17-81delinsTGG (GJA4)	NP_002051.2:n.-17-83_-17-81delinsTGG
XM_005270750.1:c.-100_-98delinsTGG (GJA4)	XP_005270807.1:n.-100_-98delinsTGG
XR_947179.1:n.1001+4255_1001+4257delinsCCA
XM_005270750.2:c.-100_-98delinsTGG (GJA4)	XP_005270807.1:n.-100_-98delinsTGG
XM_017001043.2:c.-17-83_-17-81delinsTGG (GJA4)	XP_016856532.1:n.-17-83_-17-81delinsTGG
XR_001737967.1:n.1023+4255_1023+4257delinsCCA
NM_002060.3:c.-17-83_-17-81delinsTGG (GJA4) MANE Select	NP_002051.2:n.-17-83_-17-81delinsTGG