Canonical Allele Identifier: CA1162036830

Gene: GJA4 SMIM12

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.34794096_34794104delinsTTGTAGGTA , CM000663.2:g.34794096_34794104delinsTTGTAGGTA	GRCh38
NC_000001.10:g.35259697_35259705delinsTTGTAGGTA , CM000663.1:g.35259697_35259705delinsTTGTAGGTA	GRCh37
NC_000001.9:g.35032284_35032292delinsTTGTAGGTA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342280.5:c.-17-101_-17-93delinsTTGTAGGTA (GJA4) MANE Select	ENSP00000343676.4:n.-17-101_-17-93delinsTTGTAGGTA
ENST00000342280.4:c.-17-101_-17-93delinsTTGTAGGTA (GJA4)	ENSP00000343676.4:n.-17-101_-17-93delinsTTGTAGGTA
ENST00000426886.1:c.207+61667_207+61675delinsTACCTACAA (SMIM12)	ENSP00000429902.1:n.207+61667_207+61675delinsTACCTACAA
ENST00000450137.1:c.-112-6_-110delinsTTGTAGGTA (GJA4)
NM_002060.2:c.-17-101_-17-93delinsTTGTAGGTA (GJA4)	NP_002051.2:n.-17-101_-17-93delinsTTGTAGGTA
XM_005270750.1:c.-112-6_-110delinsTTGTAGGTA (GJA4)
XR_947179.1:n.1001+4267_1001+4275delinsTACCTACAA
XM_005270750.2:c.-112-6_-110delinsTTGTAGGTA (GJA4)
XM_017001043.2:c.-17-101_-17-93delinsTTGTAGGTA (GJA4)	XP_016856532.1:n.-17-101_-17-93delinsTTGTAGGTA
XR_001737967.1:n.1023+4267_1023+4275delinsTACCTACAA
NM_002060.3:c.-17-101_-17-93delinsTTGTAGGTA (GJA4) MANE Select	NP_002051.2:n.-17-101_-17-93delinsTTGTAGGTA