Canonical Allele Identifier: CA2651919394
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673427_10673430del , CM000682.2:g.10673427_10673430del GRCh38
NC_000020.10:g.10654075_10654078del , CM000682.1:g.10654075_10654078del GRCh37
NC_000020.9:g.10602075_10602078del NCBI36
NG_007496.1:g.5623_5626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.81+26_81+29del MANE Select ENSP00000254958.4:n.81+26_81+29del
ENST00000254958.9:c.81+26_81+29del ENSP00000254958.4:n.81+26_81+29del
NM_000214.2:c.81+26_81+29del NP_000205.1:n.81+26_81+29del
NM_000214.3:c.81+26_81+29del MANE Select NP_000205.1:n.81+26_81+29del