Canonical Allele Identifier: CA2644771206

Gene: GJA4 SMIM12

Linked Data

• gnomAD v4: 1-34794517-CGAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794521_34794525del , CM000663.2:g.34794521_34794525del	GRCh38
NC_000001.10:g.35260122_35260126del , CM000663.1:g.35260122_35260126del	GRCh37
NC_000001.9:g.35032709_35032713del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.308_312del (GJA4) MANE Select	ENSP00000343676.4:p.Glu103AlafsTer?
ENST00000342280.4:c.308_312del (GJA4)	ENSP00000343676.4:p.Glu103AlafsTer?
ENST00000426886.1:c.207+61249_207+61253del (SMIM12)	ENSP00000429902.1:n.207+61249_207+61253del
ENST00000450137.1:c.308_312del (GJA4)	ENSP00000409186.1:p.Glu103AlafsTer?
NM_002060.2:c.308_312del (GJA4)	NP_002051.2:p.Glu103AlafsTer?
XM_005270750.1:c.308_312del (GJA4)	XP_005270807.1:p.Glu103AlafsTer?
XR_947179.1:n.1001+3849_1001+3853del
XM_005270750.2:c.308_312del (GJA4)	XP_005270807.1:p.Glu103AlafsTer?
XM_017001043.2:c.308_312del (GJA4)	XP_016856532.1:p.Glu103AlafsTer?
XR_001737967.1:n.1023+3849_1023+3853del
NM_002060.3:c.308_312del (GJA4) MANE Select	NP_002051.2:p.Glu103AlafsTer?