Canonical Allele Identifier: CA2815263959

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644673_10644739del , CM000682.2:g.10644673_10644739del	GRCh38
NC_000020.10:g.10625321_10625387del , CM000682.1:g.10625321_10625387del	GRCh37
NC_000020.9:g.10573321_10573387del	NCBI36
NG_007496.1:g.34309_34375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+125_2344+191del MANE Select	ENSP00000254958.4:n.2344+125_2344+191del
ENST00000617965.2:n.2933+125_2933+191del
ENST00000254958.9:c.2344+125_2344+191del	ENSP00000254958.4:n.2344+125_2344+191del
ENST00000423891.6:n.2210+125_2210+191del
ENST00000488480.2:n.866_932del
NM_000214.2:c.2344+125_2344+191del	NP_000205.1:n.2344+125_2344+191del
NM_000214.3:c.2344+125_2344+191del MANE Select	NP_000205.1:n.2344+125_2344+191del