Canonical Allele Identifier: CA2695229550

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10656452del , CM000682.2:g.10656452del	GRCh38
NC_000020.10:g.10637100del , CM000682.1:g.10637100del	GRCh37
NC_000020.9:g.10585100del	NCBI36
NG_007496.1:g.22595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.701del MANE Select	ENSP00000254958.4:p.Cys234SerfsTer?
ENST00000254958.9:c.701del	ENSP00000254958.4:p.Cys234SerfsTer?
ENST00000423891.6:n.567del
NM_000214.2:c.701del	NP_000205.1:p.Cys234SerfsTer?
NM_000214.3:c.701del MANE Select	NP_000205.1:p.Cys234SerfsTer?