Canonical Allele Identifier: CA2815263180
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643957_10643963del , CM000682.2:g.10643957_10643963del GRCh38
NC_000020.10:g.10624605_10624611del , CM000682.1:g.10624605_10624611del GRCh37
NC_000020.9:g.10572605_10572611del NCBI36
NG_007496.1:g.35084_35090del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-100_2373-94del MANE Select ENSP00000254958.4:n.2373-100_2373-94del
ENST00000617965.2:n.2962-100_2962-94del
ENST00000254958.9:c.2373-100_2373-94del ENSP00000254958.4:n.2373-100_2373-94del
ENST00000423891.6:n.2239-100_2239-94del
NM_000214.2:c.2373-100_2373-94del NP_000205.1:n.2373-100_2373-94del
NM_000214.3:c.2373-100_2373-94del MANE Select NP_000205.1:n.2373-100_2373-94del