Canonical Allele Identifier: CA16619816
Gene: ALG11 HGNC NCBI
UTP14C HGNC NCBI

Linked Data

ClinVar Variation Id: 420418
dbSNP Id: rs1064794465

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.52024716_52024718del , CM000675.2:g.52024716_52024718del GRCh38
NC_000013.10:g.52598852_52598854del , CM000675.1:g.52598852_52598854del GRCh37
NC_000013.9:g.51496853_51496855del NCBI36
NG_028038.1:g.17330_17332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000521508.2:c.986_988del (ALG11) MANE Select ENSP00000430236.1:p.Lys329del
ENST00000649340.2:c.986_988del (ALG11) ENSP00000497184.2:p.Lys329del
ENST00000649651.2:n.5290_5292del (ALG11)
ENST00000649708.2:c.275+5573_275+5575del (ALG11) ENSP00000497459.2:n.275+5573_275+5575del
ENST00000650049.2:c.*94_*96del (ALG11) ENSP00000497398.2:n.*94_*96del
ENST00000679359.1:c.*738_*740del (ALG11) ENSP00000505579.1:n.*738_*740del
ENST00000679495.1:n.44+12254_44+12256del (ALG11)
ENST00000679544.1:c.276-3603_276-3601del (ALG11) ENSP00000505560.1:n.276-3603_276-3601del
ENST00000680058.1:n.889_891del (ALG11)
ENST00000680793.1:n.2200-3603_2200-3601del (ALG11)
ENST00000680950.1:n.1113_1115del (ALG11)
ENST00000681047.1:c.*711_*713del (ALG11) ENSP00000505034.1:n.*711_*713del
ENST00000681053.1:c.755_757del (ALG11) ENSP00000505307.1:p.Lys252del
ENST00000681145.1:c.*1-3606_*1-3604del (ALG11) ENSP00000505163.1:n.*1-3606_*1-3604del
ENST00000681226.1:n.396-3603_396-3601del (ALG11)
ENST00000519151.1:n.3922_3924del (ALG11)
ENST00000521508.1:c.986_988del (ALG11) ENSP00000430236.1:p.Lys329del
ENST00000521776.2:c.-708_-706del (UTP14C) MANE Select ENSP00000428619.1:n.-708_-706del
ENST00000523764.1:c.45-3603_45-3601del (ALG11) ENSP00000429497.1:n.45-3603_45-3601del
NM_001004127.2:c.986_988del (ALG11) NP_001004127.2:p.Lys329del
NM_021645.5:c.-708_-706del (UTP14C) NP_067677.4:n.-708_-706del
NR_036571.2:n.77-3603_77-3601del (ALG11)
NM_001004127.3:c.986_988del (ALG11) MANE Select NP_001004127.2:p.Lys329del
NM_021645.6:c.-708_-706del (UTP14C) MANE Select NP_067677.4:n.-708_-706del
NR_036571.3:n.66-3603_66-3601del (ALG11)