Canonical Allele Identifier: CA5156428
Gene: ALG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 647919
ClinVar RCV Id: RCV000802543
dbSNP Id: rs759891618
ExAC: 9:101983914 A / ACGG
gnomAD v2: 9-101983914-A-ACGG
gnomAD v3: 9-99221632-A-ACGG
gnomAD v4: 9-99221632-A-ACGG
MyVariant Identifiers: chr9:g.101983914_101983915insCGG (hg19) chr9:g.99221632_99221633insCGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221638_99221640dup , CM000671.2:g.99221638_99221640dup GRCh38
NC_000009.11:g.101983920_101983922dup , CM000671.1:g.101983920_101983922dup GRCh37
NC_000009.10:g.101023741_101023743dup NCBI36
NG_008928.1:g.5330_5332dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.260_262dup MANE Select ENSP00000417764.1:p.Ala87_Val88insAla
ENST00000238477.5:c.260_262dup ENSP00000432675.2:p.Ala87_Val88insAla
ENST00000476832.1:c.260_262dup ENSP00000417764.1:p.Ala87_Val88insAla
NM_033087.3:c.260_262dup NP_149078.1:p.Ala87_Val88insAla
NR_024532.1:n.330_332dup
NM_033087.4:c.260_262dup MANE Select NP_149078.1:p.Ala87_Val88insAla
NR_024532.2:n.308_310dup
Search 100 bp 5'
Search 100 bp 3'