Canonical Allele Identifier: CA2815263159
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10643940_10643941insCCCAA , CM000682.2:g.10643940_10643941insCCCAA GRCh38
NC_000020.10:g.10624588_10624589insCCCAA , CM000682.1:g.10624588_10624589insCCCAA GRCh37
NC_000020.9:g.10572588_10572589insCCCAA NCBI36
NG_007496.1:g.35106_35107insTTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2373-78_2373-77insTTGGG MANE Select ENSP00000254958.4:n.2373-78_2373-77insTTGGG
ENST00000617965.2:n.2962-78_2962-77insTTGGG
ENST00000254958.9:c.2373-78_2373-77insTTGGG ENSP00000254958.4:n.2373-78_2373-77insTTGGG
ENST00000423891.6:n.2239-78_2239-77insTTGGG
NM_000214.2:c.2373-78_2373-77insTTGGG NP_000205.1:n.2373-78_2373-77insTTGGG
NM_000214.3:c.2373-78_2373-77insTTGGG MANE Select NP_000205.1:n.2373-78_2373-77insTTGGG