Canonical Allele Identifier: CA2349882329

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644656_10644658delinsCTG , CM000682.2:g.10644656_10644658delinsCTG	GRCh38
NC_000020.10:g.10625304_10625306delinsCTG , CM000682.1:g.10625304_10625306delinsCTG	GRCh37
NC_000020.9:g.10573304_10573306delinsCTG	NCBI36
NG_007496.1:g.34389_34391delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+205_2344+207delinsCAG MANE Select	ENSP00000254958.4:n.2344+205_2344+207delinsCAG
ENST00000617965.2:n.2933+205_2933+207delinsCAG
ENST00000254958.9:c.2344+205_2344+207delinsCAG	ENSP00000254958.4:n.2344+205_2344+207delinsCAG
ENST00000423891.6:n.2210+205_2210+207delinsCAG
ENST00000488480.2:n.946_948delinsCAG
NM_000214.2:c.2344+205_2344+207delinsCAG	NP_000205.1:n.2344+205_2344+207delinsCAG
NM_000214.3:c.2344+205_2344+207delinsCAG MANE Select	NP_000205.1:n.2344+205_2344+207delinsCAG