Canonical Allele Identifier: CA311351362

Gene: JAG1

Linked Data

• dbSNP Id: rs758059015
• MyVariant Identifiers: chr20:g.10638831_10638832del (hg19) ; chr20:g.10658183_10658184del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658183_10658184del , CM000682.2:g.10658183_10658184del	GRCh38
NC_000020.10:g.10638831_10638832del , CM000682.1:g.10638831_10638832del	GRCh37
NC_000020.9:g.10586831_10586832del	NCBI36
NG_007496.1:g.20863_20864del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+284_694+285del MANE Select	ENSP00000254958.4:n.694+284_694+285del
ENST00000254958.9:c.694+284_694+285del	ENSP00000254958.4:n.694+284_694+285del
ENST00000423891.6:n.560+284_560+285del
NM_000214.2:c.694+284_694+285del	NP_000205.1:n.694+284_694+285del
NM_000214.3:c.694+284_694+285del MANE Select	NP_000205.1:n.694+284_694+285del