Canonical Allele Identifier: CA2815263241
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644005_10644006insACA , CM000682.2:g.10644005_10644006insACA GRCh38
NC_000020.10:g.10624653_10624654insACA , CM000682.1:g.10624653_10624654insACA GRCh37
NC_000020.9:g.10572653_10572654insACA NCBI36
NG_007496.1:g.35041_35042insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-143_2373-142insTGT MANE Select ENSP00000254958.4:n.2373-143_2373-142insTGT
ENST00000617965.2:n.2962-143_2962-142insTGT
ENST00000254958.9:c.2373-143_2373-142insTGT ENSP00000254958.4:n.2373-143_2373-142insTGT
ENST00000423891.6:n.2239-143_2239-142insTGT
NM_000214.2:c.2373-143_2373-142insTGT NP_000205.1:n.2373-143_2373-142insTGT
NM_000214.3:c.2373-143_2373-142insTGT MANE Select NP_000205.1:n.2373-143_2373-142insTGT