Canonical Allele Identifier: CA634454884

Gene: JAG1

Linked Data

• dbSNP Id: rs1210393202
• gnomAD v2: 20-10639686-TCTGC-T
• gnomAD v3: 20-10659038-TCTGC-T
• gnomAD v4: 20-10659038-TCTGC-T
• MyVariant Identifiers: chr20:g.10639687_10639690del (hg19) ; chr20:g.10659039_10659042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10659042_10659045del , CM000682.2:g.10659042_10659045del	GRCh38
NC_000020.10:g.10639690_10639693del , CM000682.1:g.10639690_10639693del	GRCh37
NC_000020.9:g.10587690_10587693del	NCBI36
NG_007496.1:g.20005_20008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.440-320_440-317del MANE Select	ENSP00000254958.4:n.440-320_440-317del
ENST00000254958.9:c.440-320_440-317del	ENSP00000254958.4:n.440-320_440-317del
ENST00000423891.6:n.306-320_306-317del
NM_000214.2:c.440-320_440-317del	NP_000205.1:n.440-320_440-317del
NM_000214.3:c.440-320_440-317del MANE Select	NP_000205.1:n.440-320_440-317del