Canonical Allele Identifier: CA2815263244
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644007_10644008insA , CM000682.2:g.10644007_10644008insA GRCh38
NC_000020.10:g.10624655_10624656insA , CM000682.1:g.10624655_10624656insA GRCh37
NC_000020.9:g.10572655_10572656insA NCBI36
NG_007496.1:g.35039_35040insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-145_2373-144insT MANE Select ENSP00000254958.4:n.2373-145_2373-144insT
ENST00000617965.2:n.2962-145_2962-144insT
ENST00000254958.9:c.2373-145_2373-144insT ENSP00000254958.4:n.2373-145_2373-144insT
ENST00000423891.6:n.2239-145_2239-144insT
NM_000214.2:c.2373-145_2373-144insT NP_000205.1:n.2373-145_2373-144insT
NM_000214.3:c.2373-145_2373-144insT MANE Select NP_000205.1:n.2373-145_2373-144insT