Canonical Allele Identifier: CA1659501364

Gene: GJA1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446631_121446636delinsCAAACA , CM000668.2:g.121446631_121446636delinsCAAACA	GRCh38
NC_000006.11:g.121767777_121767782delinsCAAACA , CM000668.1:g.121767777_121767782delinsCAAACA	GRCh37
NC_000006.10:g.121809476_121809481delinsCAAACA	NCBI36
NG_008308.1:g.16033_16038delinsCAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-201_-16-196delinsCAAACA MANE Select	ENSP00000282561.3:n.-16-201_-16-196delinsCAAACA
ENST00000647564.1:c.-16-201_-16-196delinsCAAACA	ENSP00000497565.1:n.-16-201_-16-196delinsCAAACA
ENST00000649003.1:c.-16-201_-16-196delinsCAAACA	ENSP00000497283.1:n.-16-201_-16-196delinsCAAACA
ENST00000650427.1:c.-16-201_-16-196delinsCAAACA	ENSP00000497367.1:n.-16-201_-16-196delinsCAAACA
ENST00000282561.3:c.-16-201_-16-196delinsCAAACA	ENSP00000282561.3:n.-16-201_-16-196delinsCAAACA
NM_000165.4:c.-16-201_-16-196delinsCAAACA	NP_000156.1:n.-16-201_-16-196delinsCAAACA
NM_000165.5:c.-16-201_-16-196delinsCAAACA MANE Select	NP_000156.1:n.-16-201_-16-196delinsCAAACA