Canonical Allele Identifier: CA2815263179
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643956_10643957insACA , CM000682.2:g.10643956_10643957insACA GRCh38
NC_000020.10:g.10624604_10624605insACA , CM000682.1:g.10624604_10624605insACA GRCh37
NC_000020.9:g.10572604_10572605insACA NCBI36
NG_007496.1:g.35090_35091insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-94_2373-93insTGT MANE Select ENSP00000254958.4:n.2373-94_2373-93insTGT
ENST00000617965.2:n.2962-94_2962-93insTGT
ENST00000254958.9:c.2373-94_2373-93insTGT ENSP00000254958.4:n.2373-94_2373-93insTGT
ENST00000423891.6:n.2239-94_2239-93insTGT
NM_000214.2:c.2373-94_2373-93insTGT NP_000205.1:n.2373-94_2373-93insTGT
NM_000214.3:c.2373-94_2373-93insTGT MANE Select NP_000205.1:n.2373-94_2373-93insTGT