Canonical Allele Identifier: CA2815263215
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643982_10643983insAGT , CM000682.2:g.10643982_10643983insAGT GRCh38
NC_000020.10:g.10624630_10624631insAGT , CM000682.1:g.10624630_10624631insAGT GRCh37
NC_000020.9:g.10572630_10572631insAGT NCBI36
NG_007496.1:g.35064_35065insACT

Transcript Alleles

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