Canonical Allele Identifier: CA2815263211
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643984_10643985del , CM000682.2:g.10643984_10643985del GRCh38
NC_000020.10:g.10624632_10624633del , CM000682.1:g.10624632_10624633del GRCh37
NC_000020.9:g.10572632_10572633del NCBI36
NG_007496.1:g.35064_35065del

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-120_2373-119del MANE Select ENSP00000254958.4:n.2373-120_2373-119del
ENST00000617965.2:n.2962-120_2962-119del
ENST00000254958.9:c.2373-120_2373-119del ENSP00000254958.4:n.2373-120_2373-119del
ENST00000423891.6:n.2239-120_2239-119del
NM_000214.2:c.2373-120_2373-119del NP_000205.1:n.2373-120_2373-119del
NM_000214.3:c.2373-120_2373-119del MANE Select NP_000205.1:n.2373-120_2373-119del