Canonical Allele Identifier: CA634455485

Gene: JAG1

Linked Data

• dbSNP Id: rs1288465058
• gnomAD v2: 20-10654050-G-GGGGAGGGAGAGGACGGCT
• gnomAD v4: 20-10673402-G-GGGGAGGGAGAGGACGGCT
• MyVariant Identifiers: chr20:g.10654050_10654051insGGGAGGGAGAGGACGGCT (hg19) ; chr20:g.10673402_10673403insGGGAGGGAGAGGACGGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673412_10673429dup , CM000682.2:g.10673412_10673429dup	GRCh38
NC_000020.10:g.10654060_10654077dup , CM000682.1:g.10654060_10654077dup	GRCh37
NC_000020.9:g.10602060_10602077dup	NCBI36
NG_007496.1:g.5627_5644dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.81+30_81+47dup MANE Select	ENSP00000254958.4:n.81+30_81+47dup
ENST00000254958.9:c.81+30_81+47dup	ENSP00000254958.4:n.81+30_81+47dup
NM_000214.2:c.81+30_81+47dup	NP_000205.1:n.81+30_81+47dup
NM_000214.3:c.81+30_81+47dup MANE Select	NP_000205.1:n.81+30_81+47dup