Canonical Allele Identifier: CA2815262758
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658783_10658784insAG , CM000682.2:g.10658783_10658784insAG GRCh38
NC_000020.10:g.10639431_10639432insAG , CM000682.1:g.10639431_10639432insAG GRCh37
NC_000020.9:g.10587431_10587432insAG NCBI36
NG_007496.1:g.20263_20264insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-62_440-61insCT MANE Select ENSP00000254958.4:n.440-62_440-61insCT
ENST00000254958.9:c.440-62_440-61insCT ENSP00000254958.4:n.440-62_440-61insCT
ENST00000423891.6:n.306-62_306-61insCT
NM_000214.2:c.440-62_440-61insCT NP_000205.1:n.440-62_440-61insCT
NM_000214.3:c.440-62_440-61insCT MANE Select NP_000205.1:n.440-62_440-61insCT