Canonical Allele Identifier: CA9765098

Gene: JAG1

Linked Data

• ClinVar Variation Id: 1599523
• ClinVar RCV Id: RCV002129820 ; RCV002500025
• dbSNP Id: rs112693360
• ExAC: 20:10639098 G / GCA
• gnomAD v2: 20-10639098-G-GCA
• gnomAD v3: 20-10658450-G-GCA
• gnomAD v4: 20-10658450-G-GCA
• MyVariant Identifiers: chr20:g.10639100_10639101insCA (hg19) ; chr20:g.10639098_10639099insCA (hg19) ; chr20:g.10658452_10658453insCA (hg38) ; chr20:g.10658450_10658451insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10658463_10658464dup , CM000682.2:g.10658463_10658464dup	GRCh38
NC_000020.10:g.10639111_10639112dup , CM000682.1:g.10639111_10639112dup	GRCh37
NC_000020.9:g.10587111_10587112dup	NCBI36
NG_007496.1:g.20595_20596dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.694+16_694+17dup MANE Select	ENSP00000254958.4:n.694+16_694+17dup
ENST00000254958.9:c.694+16_694+17dup	ENSP00000254958.4:n.694+16_694+17dup
ENST00000423891.6:n.560+16_560+17dup
NM_000214.2:c.694+16_694+17dup	NP_000205.1:n.694+16_694+17dup
NM_000214.3:c.694+16_694+17dup MANE Select	NP_000205.1:n.694+16_694+17dup