Canonical Allele Identifier: CA2815263221
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643985_10643986del , CM000682.2:g.10643985_10643986del GRCh38
NC_000020.10:g.10624633_10624634del , CM000682.1:g.10624633_10624634del GRCh37
NC_000020.9:g.10572633_10572634del NCBI36
NG_007496.1:g.35061_35062del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-123_2373-122del MANE Select ENSP00000254958.4:n.2373-123_2373-122del
ENST00000617965.2:n.2962-123_2962-122del
ENST00000254958.9:c.2373-123_2373-122del ENSP00000254958.4:n.2373-123_2373-122del
ENST00000423891.6:n.2239-123_2239-122del
NM_000214.2:c.2373-123_2373-122del NP_000205.1:n.2373-123_2373-122del
NM_000214.3:c.2373-123_2373-122del MANE Select NP_000205.1:n.2373-123_2373-122del