Canonical Allele Identifier: CA2815262374
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10658387_10658388insGG , CM000682.2:g.10658387_10658388insGG GRCh38
NC_000020.10:g.10639035_10639036insGG , CM000682.1:g.10639035_10639036insGG GRCh37
NC_000020.9:g.10587035_10587036insGG NCBI36
NG_007496.1:g.20659_20660insCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.694+80_694+81insCC MANE Select ENSP00000254958.4:n.694+80_694+81insCC
ENST00000254958.9:c.694+80_694+81insCC ENSP00000254958.4:n.694+80_694+81insCC
ENST00000423891.6:n.560+80_560+81insCC
NM_000214.2:c.694+80_694+81insCC NP_000205.1:n.694+80_694+81insCC
NM_000214.3:c.694+80_694+81insCC MANE Select NP_000205.1:n.694+80_694+81insCC