Canonical Allele Identifier: CA2815263925

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644640_10644646del , CM000682.2:g.10644640_10644646del	GRCh38
NC_000020.10:g.10625288_10625294del , CM000682.1:g.10625288_10625294del	GRCh37
NC_000020.9:g.10573288_10573294del	NCBI36
NG_007496.1:g.34401_34407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+217_2344+223del MANE Select	ENSP00000254958.4:n.2344+217_2344+223del
ENST00000617965.2:n.2933+217_2933+223del
ENST00000254958.9:c.2344+217_2344+223del	ENSP00000254958.4:n.2344+217_2344+223del
ENST00000423891.6:n.2210+217_2210+223del
ENST00000488480.2:n.958_964del
NM_000214.2:c.2344+217_2344+223del	NP_000205.1:n.2344+217_2344+223del
NM_000214.3:c.2344+217_2344+223del MANE Select	NP_000205.1:n.2344+217_2344+223del