Canonical Allele Identifier: CA1659501663
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447465_121447474delinsAACCATCTTC , CM000668.2:g.121447465_121447474delinsAACCATCTTC GRCh38
NC_000006.11:g.121768611_121768620delinsAACCATCTTC , CM000668.1:g.121768611_121768620delinsAACCATCTTC GRCh37
NC_000006.10:g.121810310_121810319delinsAACCATCTTC NCBI36
NG_008308.1:g.16867_16876delinsAACCATCTTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.618_627delinsAACCATCTTC MANE Select ENSP00000282561.3:p.Lys206=
ENST00000647564.1:c.618_627delinsAACCATCTTC ENSP00000497565.1:p.Lys206=
ENST00000649003.1:c.618_627delinsAACCATCTTC ENSP00000497283.1:p.Lys206=
ENST00000650427.1:c.618_627delinsAACCATCTTC ENSP00000497367.1:p.Lys206=
ENST00000282561.3:c.618_627delinsAACCATCTTC ENSP00000282561.3:p.Lys206=
NM_000165.4:c.618_627delinsAACCATCTTC NP_000156.1:p.Lys206=
NM_000165.5:c.618_627delinsAACCATCTTC MANE Select NP_000156.1:p.Lys206=
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