Canonical Allele Identifier: CA2815263961
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644685_10644686insAG , CM000682.2:g.10644685_10644686insAG GRCh38
NC_000020.10:g.10625333_10625334insAG , CM000682.1:g.10625333_10625334insAG GRCh37
NC_000020.9:g.10573333_10573334insAG NCBI36
NG_007496.1:g.34361_34362insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+177_2344+178insCT MANE Select ENSP00000254958.4:n.2344+177_2344+178insCT
ENST00000617965.2:n.2933+177_2933+178insCT
ENST00000254958.9:c.2344+177_2344+178insCT ENSP00000254958.4:n.2344+177_2344+178insCT
ENST00000423891.6:n.2210+177_2210+178insCT
ENST00000488480.2:n.918_919insCT
NM_000214.2:c.2344+177_2344+178insCT NP_000205.1:n.2344+177_2344+178insCT
NM_000214.3:c.2344+177_2344+178insCT MANE Select NP_000205.1:n.2344+177_2344+178insCT