Canonical Allele Identifier: CA634452197

Gene: JAG1

Linked Data

• dbSNP Id: rs774508190
• gnomAD v2: 20-10625493-A-AG
• gnomAD v3: 20-10644845-A-AG
• gnomAD v4: 20-10644845-A-AG
• MyVariant Identifiers: chr20:g.10625494_10625495insG (hg19) ; chr20:g.10625493_10625494insG (hg19) ; chr20:g.10644845_10644846insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10644851dup , CM000682.2:g.10644851dup	GRCh38
NC_000020.10:g.10625499dup , CM000682.1:g.10625499dup	GRCh37
NC_000020.9:g.10573499dup	NCBI36
NG_007496.1:g.34201dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000254958.10:c.2344+17dup MANE Select	ENSP00000254958.4:n.2344+17dup
ENST00000617965.2:n.2933+17dup
ENST00000254958.9:c.2344+17dup	ENSP00000254958.4:n.2344+17dup
ENST00000423891.6:n.2210+17dup
ENST00000488480.2:n.758dup
NM_000214.2:c.2344+17dup	NP_000205.1:n.2344+17dup
NM_000214.3:c.2344+17dup MANE Select	NP_000205.1:n.2344+17dup