Canonical Allele Identifier: CA741107634

Gene: JAG1

Linked Data

• dbSNP Id: rs1251602363
• MyVariant Identifiers: chr20:g.10639590_10639594del (hg19) ; chr20:g.10658942_10658946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658942_10658946del , CM000682.2:g.10658942_10658946del	GRCh38
NC_000020.10:g.10639590_10639594del , CM000682.1:g.10639590_10639594del	GRCh37
NC_000020.9:g.10587590_10587594del	NCBI36
NG_007496.1:g.20101_20105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.440-224_440-220del MANE Select	ENSP00000254958.4:n.440-224_440-220del
ENST00000254958.9:c.440-224_440-220del	ENSP00000254958.4:n.440-224_440-220del
ENST00000423891.6:n.306-224_306-220del
NM_000214.2:c.440-224_440-220del	NP_000205.1:n.440-224_440-220del
NM_000214.3:c.440-224_440-220del MANE Select	NP_000205.1:n.440-224_440-220del