Canonical Allele Identifier: CA2651917921
Gene: JAG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658419del , CM000682.2:g.10658419del GRCh38
NC_000020.10:g.10639067del , CM000682.1:g.10639067del GRCh37
NC_000020.9:g.10587067del NCBI36
NG_007496.1:g.20629del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+50del MANE Select ENSP00000254958.4:n.694+50del
ENST00000254958.9:c.694+50del ENSP00000254958.4:n.694+50del
ENST00000423891.6:n.560+50del
NM_000214.2:c.694+50del NP_000205.1:n.694+50del
NM_000214.3:c.694+50del MANE Select NP_000205.1:n.694+50del