Canonical Allele Identifier: CA2623120563

Gene: ALG11 UTP14C

Linked Data

• gnomAD v4: 13-52028206-TAATTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028208_52028212del , CM000675.2:g.52028208_52028212del	GRCh38
NC_000013.10:g.52602344_52602348del , CM000675.1:g.52602344_52602348del	GRCh37
NC_000013.9:g.51500345_51500349del	NCBI36
NG_028038.1:g.20822_20826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1208-111_1208-107del (ALG11) MANE Select	ENSP00000430236.1:n.1208-111_1208-107del
ENST00000649340.2:c.1208-114_1208-110del (ALG11)	ENSP00000497184.2:n.1208-114_1208-110del
ENST00000649651.2:n.5512-111_5512-107del (ALG11)
ENST00000649708.2:c.275+9065_275+9069del (ALG11)	ENSP00000497459.2:n.275+9065_275+9069del
ENST00000650049.2:c.*316-111_*316-107del (ALG11)	ENSP00000497398.2:n.*316-111_*316-107del
ENST00000679359.1:c.*960-111_*960-107del (ALG11)	ENSP00000505579.1:n.*960-111_*960-107del
ENST00000679495.1:n.44+15746_44+15750del (ALG11)
ENST00000679544.1:c.276-111_276-107del (ALG11)	ENSP00000505560.1:n.276-111_276-107del
ENST00000680058.1:n.1111-111_1111-107del (ALG11)
ENST00000680793.1:n.2200-111_2200-107del (ALG11)
ENST00000680950.1:n.1335-111_1335-107del (ALG11)
ENST00000681047.1:c.*933-111_*933-107del (ALG11)	ENSP00000505034.1:n.*933-111_*933-107del
ENST00000681053.1:c.977-111_977-107del (ALG11)	ENSP00000505307.1:n.977-111_977-107del
ENST00000681145.1:c.*1-114_*1-110del (ALG11)	ENSP00000505163.1:n.*1-114_*1-110del
ENST00000681226.1:n.396-111_396-107del (ALG11)
ENST00000519151.1:n.4144-111_4144-107del (ALG11)
ENST00000521508.1:c.1208-111_1208-107del (ALG11)	ENSP00000430236.1:n.1208-111_1208-107del
ENST00000521776.2:c.-486-111_-486-107del (UTP14C) MANE Select	ENSP00000428619.1:n.-486-111_-486-107del
ENST00000523764.1:c.45-111_45-107del (ALG11)	ENSP00000429497.1:n.45-111_45-107del
NM_001004127.2:c.1208-111_1208-107del (ALG11)	NP_001004127.2:n.1208-111_1208-107del
NM_021645.5:c.-486-111_-486-107del (UTP14C)	NP_067677.4:n.-486-111_-486-107del
NR_036571.2:n.77-111_77-107del (ALG11)
NM_001004127.3:c.1208-111_1208-107del (ALG11) MANE Select	NP_001004127.2:n.1208-111_1208-107del
NM_021645.6:c.-486-111_-486-107del (UTP14C) MANE Select	NP_067677.4:n.-486-111_-486-107del
NR_036571.3:n.66-111_66-107del (ALG11)