Canonical Allele Identifier: CA2815262902
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658834_10658835insACAT , CM000682.2:g.10658834_10658835insACAT GRCh38
NC_000020.10:g.10639482_10639483insACAT , CM000682.1:g.10639482_10639483insACAT GRCh37
NC_000020.9:g.10587482_10587483insACAT NCBI36
NG_007496.1:g.20212_20213insATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.440-113_440-112insATGT MANE Select ENSP00000254958.4:n.440-113_440-112insATGT
ENST00000254958.9:c.440-113_440-112insATGT ENSP00000254958.4:n.440-113_440-112insATGT
ENST00000423891.6:n.306-113_306-112insATGT
NM_000214.2:c.440-113_440-112insATGT NP_000205.1:n.440-113_440-112insATGT
NM_000214.3:c.440-113_440-112insATGT MANE Select NP_000205.1:n.440-113_440-112insATGT