Canonical Allele Identifier: CA2815263151
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643937_10643949del , CM000682.2:g.10643937_10643949del GRCh38
NC_000020.10:g.10624585_10624597del , CM000682.1:g.10624585_10624597del GRCh37
NC_000020.9:g.10572585_10572597del NCBI36
NG_007496.1:g.35098_35110del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-86_2373-74del MANE Select ENSP00000254958.4:n.2373-86_2373-74del
ENST00000617965.2:n.2962-86_2962-74del
ENST00000254958.9:c.2373-86_2373-74del ENSP00000254958.4:n.2373-86_2373-74del
ENST00000423891.6:n.2239-86_2239-74del
NM_000214.2:c.2373-86_2373-74del NP_000205.1:n.2373-86_2373-74del
NM_000214.3:c.2373-86_2373-74del MANE Select NP_000205.1:n.2373-86_2373-74del