Canonical Allele Identifier: CA2349888561
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658941_10658946delinsCCAATA , CM000682.2:g.10658941_10658946delinsCCAATA GRCh38
NC_000020.10:g.10639589_10639594delinsCCAATA , CM000682.1:g.10639589_10639594delinsCCAATA GRCh37
NC_000020.9:g.10587589_10587594delinsCCAATA NCBI36
NG_007496.1:g.20101_20106delinsTATTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-224_440-219delinsTATTGG MANE Select ENSP00000254958.4:n.440-224_440-219delinsTATTGG
ENST00000254958.9:c.440-224_440-219delinsTATTGG ENSP00000254958.4:n.440-224_440-219delinsTATTGG
ENST00000423891.6:n.306-224_306-219delinsTATTGG
NM_000214.2:c.440-224_440-219delinsTATTGG NP_000205.1:n.440-224_440-219delinsTATTGG
NM_000214.3:c.440-224_440-219delinsTATTGG MANE Select NP_000205.1:n.440-224_440-219delinsTATTGG