Canonical Allele Identifier: CA2695229399
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644931delinsTG , CM000682.2:g.10644931delinsTG GRCh38
NC_000020.10:g.10625579delinsTG , CM000682.1:g.10625579delinsTG GRCh37
NC_000020.9:g.10573579delinsTG NCBI36
NG_007496.1:g.34116delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2276delinsCA MANE Select ENSP00000254958.4:p.Cys759SerfsTer27
ENST00000617965.2:n.2865delinsCA
ENST00000254958.9:c.2276delinsCA ENSP00000254958.4:p.Cys759SerfsTer27
ENST00000423891.6:n.2142delinsCA
ENST00000488480.2:n.673delinsCA
NM_000214.2:c.2276delinsCA NP_000205.1:p.Cys759SerfsTer27
NM_000214.3:c.2276delinsCA MANE Select NP_000205.1:p.Cys759SerfsTer27
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