Canonical Allele Identifier: CA2815263176
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643953_10644207del , CM000682.2:g.10643953_10644207del GRCh38
NC_000020.10:g.10624601_10624855del , CM000682.1:g.10624601_10624855del GRCh37
NC_000020.9:g.10572601_10572855del NCBI36
NG_007496.1:g.34840_35094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2372+150_2373-90del MANE Select ENSP00000254958.4:n.2372+150_2373-90del
ENST00000617965.2:n.2961+150_2962-90del
ENST00000254958.9:c.2372+150_2373-90del ENSP00000254958.4:n.2372+150_2373-90del
ENST00000423891.6:n.2238+150_2239-90del
NM_000214.2:c.2372+150_2373-90del NP_000205.1:n.2372+150_2373-90del
NM_000214.3:c.2372+150_2373-90del MANE Select NP_000205.1:n.2372+150_2373-90del