Canonical Allele Identifier: CA2695206911
Gene: GJA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447354_121447356del , CM000668.2:g.121447354_121447356del GRCh38
NC_000006.11:g.121768500_121768502del , CM000668.1:g.121768500_121768502del GRCh37
NC_000006.10:g.121810199_121810201del NCBI36
NG_008308.1:g.16756_16758del

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.507_509del MANE Select ENSP00000282561.3:p.Phe169del
ENST00000647564.1:c.507_509del ENSP00000497565.1:p.Phe169del
ENST00000649003.1:c.507_509del ENSP00000497283.1:p.Phe169del
ENST00000650427.1:c.507_509del ENSP00000497367.1:p.Phe169del
ENST00000282561.3:c.507_509del ENSP00000282561.3:p.Phe169del
NM_000165.4:c.507_509del NP_000156.1:p.Phe169del
NM_000165.5:c.507_509del MANE Select NP_000156.1:p.Phe169del
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