Canonical Allele Identifier: CA2815263247
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644012_10644014del , CM000682.2:g.10644012_10644014del GRCh38
NC_000020.10:g.10624660_10624662del , CM000682.1:g.10624660_10624662del GRCh37
NC_000020.9:g.10572660_10572662del NCBI36
NG_007496.1:g.35033_35035del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-151_2373-149del MANE Select ENSP00000254958.4:n.2373-151_2373-149del
ENST00000617965.2:n.2962-151_2962-149del
ENST00000254958.9:c.2373-151_2373-149del ENSP00000254958.4:n.2373-151_2373-149del
ENST00000423891.6:n.2239-151_2239-149del
NM_000214.2:c.2373-151_2373-149del NP_000205.1:n.2373-151_2373-149del
NM_000214.3:c.2373-151_2373-149del MANE Select NP_000205.1:n.2373-151_2373-149del