Canonical Allele Identifier: CA2815263912
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644623_10644624insC , CM000682.2:g.10644623_10644624insC GRCh38
NC_000020.10:g.10625271_10625272insC , CM000682.1:g.10625271_10625272insC GRCh37
NC_000020.9:g.10573271_10573272insC NCBI36
NG_007496.1:g.34423_34424insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2345-240_2345-239insG MANE Select ENSP00000254958.4:n.2345-240_2345-239insG
ENST00000617965.2:n.2934-240_2934-239insG
ENST00000254958.9:c.2345-240_2345-239insG ENSP00000254958.4:n.2345-240_2345-239insG
ENST00000423891.6:n.2211-240_2211-239insG
ENST00000488480.2:n.980_981insG
NM_000214.2:c.2345-240_2345-239insG NP_000205.1:n.2345-240_2345-239insG
NM_000214.3:c.2345-240_2345-239insG MANE Select NP_000205.1:n.2345-240_2345-239insG