Canonical Allele Identifier: CA10652957

Gene: JAG1

Linked Data

• ClinVar Variation Id: 337767
• ClinVar RCV Id: RCV000317633 ; RCV000378964 ; RCV002298574
• dbSNP Id: rs147400796
• gnomAD v2: 20-10654471-CCTT-C
• gnomAD v3: 20-10673823-CCTT-C
• gnomAD v4: 20-10673823-CCTT-C
• MyVariant Identifiers: chr20:g.10654472_10654474del (hg19) ; chr20:g.10673824_10673826del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10673827_10673829del , CM000682.2:g.10673827_10673829del	GRCh38
NC_000020.10:g.10654475_10654477del , CM000682.1:g.10654475_10654477del	GRCh37
NC_000020.9:g.10602475_10602477del	NCBI36
NG_007496.1:g.5221_5223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.-296_-294del MANE Select	ENSP00000254958.4:n.-296_-294del
ENST00000254958.9:c.-296_-294del	ENSP00000254958.4:n.-296_-294del
NM_000214.2:c.-296_-294del	NP_000205.1:n.-296_-294del
NM_000214.3:c.-296_-294del MANE Select	NP_000205.1:n.-296_-294del