Canonical Allele Identifier: CA2815263965

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644690_10644691insACA , CM000682.2:g.10644690_10644691insACA	GRCh38
NC_000020.10:g.10625338_10625339insACA , CM000682.1:g.10625338_10625339insACA	GRCh37
NC_000020.9:g.10573338_10573339insACA	NCBI36
NG_007496.1:g.34356_34357insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+172_2344+173insTGT MANE Select	ENSP00000254958.4:n.2344+172_2344+173insTGT
ENST00000617965.2:n.2933+172_2933+173insTGT
ENST00000254958.9:c.2344+172_2344+173insTGT	ENSP00000254958.4:n.2344+172_2344+173insTGT
ENST00000423891.6:n.2210+172_2210+173insTGT
ENST00000488480.2:n.913_914insTGT
NM_000214.2:c.2344+172_2344+173insTGT	NP_000205.1:n.2344+172_2344+173insTGT
NM_000214.3:c.2344+172_2344+173insTGT MANE Select	NP_000205.1:n.2344+172_2344+173insTGT