Canonical Allele Identifier: CA2695206910
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447247_121447249del , CM000668.2:g.121447247_121447249del GRCh38
NC_000006.11:g.121768393_121768395del , CM000668.1:g.121768393_121768395del GRCh37
NC_000006.10:g.121810092_121810094del NCBI36
NG_008308.1:g.16649_16651del

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.400_402del MANE Select ENSP00000282561.3:p.Lys134del
ENST00000647564.1:c.400_402del ENSP00000497565.1:p.Lys134del
ENST00000649003.1:c.400_402del ENSP00000497283.1:p.Lys134del
ENST00000650427.1:c.400_402del ENSP00000497367.1:p.Lys134del
ENST00000282561.3:c.400_402del ENSP00000282561.3:p.Lys134del
NM_000165.4:c.400_402del NP_000156.1:p.Lys134del
NM_000165.5:c.400_402del MANE Select NP_000156.1:p.Lys134del
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