Canonical Allele Identifier: CA1659501394
Gene: GJA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446704_121446737delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG , CM000668.2:g.121446704_121446737delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG GRCh38
NC_000006.11:g.121767850_121767883delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG , CM000668.1:g.121767850_121767883delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG GRCh37
NC_000006.10:g.121809549_121809582delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG NCBI36
NG_008308.1:g.16106_16139delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG MANE Select ENSP00000282561.3:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAA...
ENST00000647564.1:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG ENSP00000497565.1:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAA...
ENST00000649003.1:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG ENSP00000497283.1:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAA...
ENST00000650427.1:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG ENSP00000497367.1:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAA...
ENST00000282561.3:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG ENSP00000282561.3:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAA...
NM_000165.4:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG NP_000156.1:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGT...
NM_000165.5:c.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGTGAAACCG MANE Select NP_000156.1:n.-16-128_-16-95delinsTTTTGTGAAAGAATGTTAGAAATACGT...