Canonical Allele Identifier: CA2695229554

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658537del , CM000682.2:g.10658537del	GRCh38
NC_000020.10:g.10639185del , CM000682.1:g.10639185del	GRCh37
NC_000020.9:g.10587185del	NCBI36
NG_007496.1:g.20510del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.625del MANE Select	ENSP00000254958.4:p.His209ThrfsTer?
ENST00000254958.9:c.625del	ENSP00000254958.4:p.His209ThrfsTer?
ENST00000423891.6:n.491del
NM_000214.2:c.625del	NP_000205.1:p.His209ThrfsTer?
NM_000214.3:c.625del MANE Select	NP_000205.1:p.His209ThrfsTer?