Canonical Allele Identifier: CA2349888505
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658823_10658827delinsTTCTA , CM000682.2:g.10658823_10658827delinsTTCTA GRCh38
NC_000020.10:g.10639471_10639475delinsTTCTA , CM000682.1:g.10639471_10639475delinsTTCTA GRCh37
NC_000020.9:g.10587471_10587475delinsTTCTA NCBI36
NG_007496.1:g.20220_20224delinsTAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-105_440-101delinsTAGAA MANE Select ENSP00000254958.4:n.440-105_440-101delinsTAGAA
ENST00000254958.9:c.440-105_440-101delinsTAGAA ENSP00000254958.4:n.440-105_440-101delinsTAGAA
ENST00000423891.6:n.306-105_306-101delinsTAGAA
NM_000214.2:c.440-105_440-101delinsTAGAA NP_000205.1:n.440-105_440-101delinsTAGAA
NM_000214.3:c.440-105_440-101delinsTAGAA MANE Select NP_000205.1:n.440-105_440-101delinsTAGAA