Canonical Allele Identifier: CA2815263209
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643979_10643980insA , CM000682.2:g.10643979_10643980insA GRCh38
NC_000020.10:g.10624627_10624628insA , CM000682.1:g.10624627_10624628insA GRCh37
NC_000020.9:g.10572627_10572628insA NCBI36
NG_007496.1:g.35067_35068insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-117_2373-116insT MANE Select ENSP00000254958.4:n.2373-117_2373-116insT
ENST00000617965.2:n.2962-117_2962-116insT
ENST00000254958.9:c.2373-117_2373-116insT ENSP00000254958.4:n.2373-117_2373-116insT
ENST00000423891.6:n.2239-117_2239-116insT
NM_000214.2:c.2373-117_2373-116insT NP_000205.1:n.2373-117_2373-116insT
NM_000214.3:c.2373-117_2373-116insT MANE Select NP_000205.1:n.2373-117_2373-116insT