Canonical Allele Identifier: CA1162036852

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794150_34794153delinsGAGA , CM000663.2:g.34794150_34794153delinsGAGA	GRCh38
NC_000001.10:g.35259751_35259754delinsGAGA , CM000663.1:g.35259751_35259754delinsGAGA	GRCh37
NC_000001.9:g.35032338_35032341delinsGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-47_-17-44delinsGAGA (GJA4) MANE Select	ENSP00000343676.4:n.-17-47_-17-44delinsGAGA
ENST00000342280.4:c.-17-47_-17-44delinsGAGA (GJA4)	ENSP00000343676.4:n.-17-47_-17-44delinsGAGA
ENST00000426886.1:c.207+61618_207+61621delinsTCTC (SMIM12)	ENSP00000429902.1:n.207+61618_207+61621delinsTCTC
ENST00000450137.1:c.-64_-61delinsGAGA (GJA4)	ENSP00000409186.1:n.-64_-61delinsGAGA
NM_002060.2:c.-17-47_-17-44delinsGAGA (GJA4)	NP_002051.2:n.-17-47_-17-44delinsGAGA
XM_005270750.1:c.-64_-61delinsGAGA (GJA4)	XP_005270807.1:n.-64_-61delinsGAGA
XR_947179.1:n.1001+4218_1001+4221delinsTCTC
XM_005270750.2:c.-64_-61delinsGAGA (GJA4)	XP_005270807.1:n.-64_-61delinsGAGA
XM_017001043.2:c.-17-47_-17-44delinsGAGA (GJA4)	XP_016856532.1:n.-17-47_-17-44delinsGAGA
XR_001737967.1:n.1023+4218_1023+4221delinsTCTC
NM_002060.3:c.-17-47_-17-44delinsGAGA (GJA4) MANE Select	NP_002051.2:n.-17-47_-17-44delinsGAGA