Canonical Allele Identifier: CA2349888409
Gene: JAG1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658583_10658584delinsGC , CM000682.2:g.10658583_10658584delinsGC GRCh38
NC_000020.10:g.10639231_10639232delinsGC , CM000682.1:g.10639231_10639232delinsGC GRCh37
NC_000020.9:g.10587231_10587232delinsGC NCBI36
NG_007496.1:g.20463_20464delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000254958.10:c.578_579delinsGC MANE Select ENSP00000254958.4:p.Gly193=
ENST00000254958.9:c.578_579delinsGC ENSP00000254958.4:p.Gly193=
ENST00000423891.6:n.444_445delinsGC
NM_000214.2:c.578_579delinsGC NP_000205.1:p.Gly193=
NM_000214.3:c.578_579delinsGC MANE Select NP_000205.1:p.Gly193=
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