Canonical Allele Identifier: CA1659501345

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446593_121446596delinsCTCA , CM000668.2:g.121446593_121446596delinsCTCA	GRCh38
NC_000006.11:g.121767739_121767742delinsCTCA , CM000668.1:g.121767739_121767742delinsCTCA	GRCh37
NC_000006.10:g.121809438_121809441delinsCTCA	NCBI36
NG_008308.1:g.15995_15998delinsCTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-239_-16-236delinsCTCA MANE Select	ENSP00000282561.3:n.-16-239_-16-236delinsCTCA
ENST00000647564.1:c.-16-239_-16-236delinsCTCA	ENSP00000497565.1:n.-16-239_-16-236delinsCTCA
ENST00000649003.1:c.-16-239_-16-236delinsCTCA	ENSP00000497283.1:n.-16-239_-16-236delinsCTCA
ENST00000650427.1:c.-16-239_-16-236delinsCTCA	ENSP00000497367.1:n.-16-239_-16-236delinsCTCA
ENST00000282561.3:c.-16-239_-16-236delinsCTCA	ENSP00000282561.3:n.-16-239_-16-236delinsCTCA
NM_000165.4:c.-16-239_-16-236delinsCTCA	NP_000156.1:n.-16-239_-16-236delinsCTCA
NM_000165.5:c.-16-239_-16-236delinsCTCA MANE Select	NP_000156.1:n.-16-239_-16-236delinsCTCA