Canonical Allele Identifier: CA10577622

Gene: JAG1

Linked Data

• ClinVar Variation Id: 7617
• ClinVar RCV Id: RCV000008056 ; RCV000223264
• dbSNP Id: rs876660978
• MyVariant Identifiers: chr20:g.10639116_10639117del (hg19) ; chr20:g.10658468_10658469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658470_10658471del , CM000682.2:g.10658470_10658471del	GRCh38
NC_000020.10:g.10639118_10639119del , CM000682.1:g.10639118_10639119del	GRCh37
NC_000020.9:g.10587118_10587119del	NCBI36
NG_007496.1:g.20578_20579del

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.693_694del MANE Select	ENSP00000254958.4:p.Arg231SerfsTer10
ENST00000254958.9:c.693_694del	ENSP00000254958.4:p.Arg231SerfsTer10
ENST00000423891.6:n.559_560del
NM_000214.2:c.693_694del	NP_000205.1:p.Arg231SerfsTer10
NM_000214.3:c.693_694del MANE Select	NP_000205.1:p.Arg231SerfsTer10