Canonical Allele Identifier: CA2651919424
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10673439del , CM000682.2:g.10673439del GRCh38
NC_000020.10:g.10654087del , CM000682.1:g.10654087del GRCh37
NC_000020.9:g.10602087del NCBI36
NG_007496.1:g.5609del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.81+12del MANE Select ENSP00000254958.4:n.81+12del
ENST00000254958.9:c.81+12del ENSP00000254958.4:n.81+12del
NM_000214.2:c.81+12del NP_000205.1:n.81+12del
NM_000214.3:c.81+12del MANE Select NP_000205.1:n.81+12del