Canonical Allele Identifier: CA2815262572
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658761_10658762del , CM000682.2:g.10658761_10658762del GRCh38
NC_000020.10:g.10639409_10639410del , CM000682.1:g.10639409_10639410del GRCh37
NC_000020.9:g.10587409_10587410del NCBI36
NG_007496.1:g.20285_20286del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-40_440-39del MANE Select ENSP00000254958.4:n.440-40_440-39del
ENST00000254958.9:c.440-40_440-39del ENSP00000254958.4:n.440-40_440-39del
ENST00000423891.6:n.306-40_306-39del
NM_000214.2:c.440-40_440-39del NP_000205.1:n.440-40_440-39del
NM_000214.3:c.440-40_440-39del MANE Select NP_000205.1:n.440-40_440-39del