Canonical Allele Identifier: CA2815263162
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643942_10643943insACA , CM000682.2:g.10643942_10643943insACA GRCh38
NC_000020.10:g.10624590_10624591insACA , CM000682.1:g.10624590_10624591insACA GRCh37
NC_000020.9:g.10572590_10572591insACA NCBI36
NG_007496.1:g.35104_35105insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-80_2373-79insTGT MANE Select ENSP00000254958.4:n.2373-80_2373-79insTGT
ENST00000617965.2:n.2962-80_2962-79insTGT
ENST00000254958.9:c.2373-80_2373-79insTGT ENSP00000254958.4:n.2373-80_2373-79insTGT
ENST00000423891.6:n.2239-80_2239-79insTGT
NM_000214.2:c.2373-80_2373-79insTGT NP_000205.1:n.2373-80_2373-79insTGT
NM_000214.3:c.2373-80_2373-79insTGT MANE Select NP_000205.1:n.2373-80_2373-79insTGT