Canonical Allele Identifier: CA2651913723

Gene: JAG1

Linked Data

• gnomAD v4: 20-10643969-A-AGGCAACGGCCATGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.10643969_10643970insGGCAACGGCCATGGGG , CM000682.2:g.10643969_10643970insGGCAACGGCCATGGGG	GRCh38
NC_000020.10:g.10624617_10624618insGGCAACGGCCATGGGG , CM000682.1:g.10624617_10624618insGGCAACGGCCATGGGG	GRCh37
NC_000020.9:g.10572617_10572618insGGCAACGGCCATGGGG	NCBI36
NG_007496.1:g.35077_35078insCCCCATGGCCGTTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254958.10:c.2373-107_2373-106insCCCCATGGCCGTTGCC MANE Select	ENSP00000254958.4:n.2373-107_2373-106insCCCCATGGCCGTTGCC
ENST00000617965.2:n.2962-107_2962-106insCCCCATGGCCGTTGCC
ENST00000254958.9:c.2373-107_2373-106insCCCCATGGCCGTTGCC	ENSP00000254958.4:n.2373-107_2373-106insCCCCATGGCCGTTGCC
ENST00000423891.6:n.2239-107_2239-106insCCCCATGGCCGTTGCC
NM_000214.2:c.2373-107_2373-106insCCCCATGGCCGTTGCC	NP_000205.1:n.2373-107_2373-106insCCCCATGGCCGTTGCC
NM_000214.3:c.2373-107_2373-106insCCCCATGGCCGTTGCC MANE Select	NP_000205.1:n.2373-107_2373-106insCCCCATGGCCGTTGCC