Canonical Allele Identifier: CA2815263236

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644003_10644136del , CM000682.2:g.10644003_10644136del	GRCh38
NC_000020.10:g.10624651_10624784del , CM000682.1:g.10624651_10624784del	GRCh37
NC_000020.9:g.10572651_10572784del	NCBI36
NG_007496.1:g.34911_35044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2372+221_2373-140del MANE Select	ENSP00000254958.4:n.2372+221_2373-140del
ENST00000617965.2:n.2961+221_2962-140del
ENST00000254958.9:c.2372+221_2373-140del	ENSP00000254958.4:n.2372+221_2373-140del
ENST00000423891.6:n.2238+221_2239-140del
NM_000214.2:c.2372+221_2373-140del	NP_000205.1:n.2372+221_2373-140del
NM_000214.3:c.2372+221_2373-140del MANE Select	NP_000205.1:n.2372+221_2373-140del