Canonical Allele Identifier: CA2651914410

Gene: JAG1

Linked Data

• gnomAD v4: 20-10644641-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644644del , CM000682.2:g.10644644del	GRCh38
NC_000020.10:g.10625292del , CM000682.1:g.10625292del	GRCh37
NC_000020.9:g.10573292del	NCBI36
NG_007496.1:g.34405del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2344+221del MANE Select	ENSP00000254958.4:n.2344+221del
ENST00000617965.2:n.2933+221del
ENST00000254958.9:c.2344+221del	ENSP00000254958.4:n.2344+221del
ENST00000423891.6:n.2210+221del
ENST00000488480.2:n.962del
NM_000214.2:c.2344+221del	NP_000205.1:n.2344+221del
NM_000214.3:c.2344+221del MANE Select	NP_000205.1:n.2344+221del