Canonical Allele Identifier: CA2815263191
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643970_10644226del , CM000682.2:g.10643970_10644226del GRCh38
NC_000020.10:g.10624618_10624874del , CM000682.1:g.10624618_10624874del GRCh37
NC_000020.9:g.10572618_10572874del NCBI36
NG_007496.1:g.34828_35084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2372+138_2373-100del MANE Select ENSP00000254958.4:n.2372+138_2373-100del
ENST00000617965.2:n.2961+138_2962-100del
ENST00000254958.9:c.2372+138_2373-100del ENSP00000254958.4:n.2372+138_2373-100del
ENST00000423891.6:n.2238+138_2239-100del
NM_000214.2:c.2372+138_2373-100del NP_000205.1:n.2372+138_2373-100del
NM_000214.3:c.2372+138_2373-100del MANE Select NP_000205.1:n.2372+138_2373-100del