Canonical Allele Identifier: CA1867298323
Gene: ALG2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.99221669_99221680delinsGCAGCCAGTCCC , CM000671.2:g.99221669_99221680delinsGCAGCCAGTCCC GRCh38
NC_000009.11:g.101983951_101983962delinsGCAGCCAGTCCC , CM000671.1:g.101983951_101983962delinsGCAGCCAGTCCC GRCh37
NC_000009.10:g.101023772_101023783delinsGCAGCCAGTCCC NCBI36
NG_008928.1:g.5285_5296delinsGGGACTGGCTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000476832.2:c.215_226delinsGGGACTGGCTGC MANE Select ENSP00000417764.1:p.Gly72=
ENST00000238477.5:c.215_226delinsGGGACTGGCTGC ENSP00000432675.2:p.Gly72=
ENST00000476832.1:c.215_226delinsGGGACTGGCTGC ENSP00000417764.1:p.Gly72=
NM_033087.3:c.215_226delinsGGGACTGGCTGC NP_149078.1:p.Gly72=
NR_024532.1:n.285_296delinsGGGACTGGCTGC
NM_033087.4:c.215_226delinsGGGACTGGCTGC MANE Select NP_149078.1:p.Gly72=
NR_024532.2:n.263_274delinsGGGACTGGCTGC
Search 100 bp 5'
Search 100 bp 3'