Canonical Allele Identifier: CA2815263937
Gene: JAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.10644648_10644649insA , CM000682.2:g.10644648_10644649insA GRCh38
NC_000020.10:g.10625296_10625297insA , CM000682.1:g.10625296_10625297insA GRCh37
NC_000020.9:g.10573296_10573297insA NCBI36
NG_007496.1:g.34398_34399insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000254958.10:c.2344+214_2344+215insT MANE Select ENSP00000254958.4:n.2344+214_2344+215insT
ENST00000617965.2:n.2933+214_2933+215insT
ENST00000254958.9:c.2344+214_2344+215insT ENSP00000254958.4:n.2344+214_2344+215insT
ENST00000423891.6:n.2210+214_2210+215insT
ENST00000488480.2:n.955_956insT
NM_000214.2:c.2344+214_2344+215insT NP_000205.1:n.2344+214_2344+215insT
NM_000214.3:c.2344+214_2344+215insT MANE Select NP_000205.1:n.2344+214_2344+215insT