Canonical Allele Identifier: CA2815262671
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658774_10658775insAGT , CM000682.2:g.10658774_10658775insAGT GRCh38
NC_000020.10:g.10639422_10639423insAGT , CM000682.1:g.10639422_10639423insAGT GRCh37
NC_000020.9:g.10587422_10587423insAGT NCBI36
NG_007496.1:g.20272_20273insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-53_440-52insACT MANE Select ENSP00000254958.4:n.440-53_440-52insACT
ENST00000254958.9:c.440-53_440-52insACT ENSP00000254958.4:n.440-53_440-52insACT
ENST00000423891.6:n.306-53_306-52insACT
NM_000214.2:c.440-53_440-52insACT NP_000205.1:n.440-53_440-52insACT
NM_000214.3:c.440-53_440-52insACT MANE Select NP_000205.1:n.440-53_440-52insACT