Canonical Allele Identifier: CA2695229555

Gene: JAG1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658582dup , CM000682.2:g.10658582dup	GRCh38
NC_000020.10:g.10639230dup , CM000682.1:g.10639230dup	GRCh37
NC_000020.9:g.10587230dup	NCBI36
NG_007496.1:g.20467dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.582dup MANE Select	ENSP00000254958.4:p.Gly195TrpfsTer4
ENST00000254958.9:c.582dup	ENSP00000254958.4:p.Gly195TrpfsTer4
ENST00000423891.6:n.448dup
NM_000214.2:c.582dup	NP_000205.1:p.Gly195TrpfsTer4
NM_000214.3:c.582dup MANE Select	NP_000205.1:p.Gly195TrpfsTer4