Canonical Allele Identifier: CA2349888518
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658847_10658848delinsAG , CM000682.2:g.10658847_10658848delinsAG GRCh38
NC_000020.10:g.10639495_10639496delinsAG , CM000682.1:g.10639495_10639496delinsAG GRCh37
NC_000020.9:g.10587495_10587496delinsAG NCBI36
NG_007496.1:g.20199_20200delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-126_440-125delinsCT MANE Select ENSP00000254958.4:n.440-126_440-125delinsCT
ENST00000254958.9:c.440-126_440-125delinsCT ENSP00000254958.4:n.440-126_440-125delinsCT
ENST00000423891.6:n.306-126_306-125delinsCT
NM_000214.2:c.440-126_440-125delinsCT NP_000205.1:n.440-126_440-125delinsCT
NM_000214.3:c.440-126_440-125delinsCT MANE Select NP_000205.1:n.440-126_440-125delinsCT