Canonical Allele Identifier: CA610426005

Gene: ALG11 UTP14C

Linked Data

• dbSNP Id: rs1282997339
• gnomAD v2: 13-52602355-CA-C
• MyVariant Identifiers: chr13:g.52602356del (hg19) ; chr13:g.52028220del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52028220del , CM000675.2:g.52028220del	GRCh38
NC_000013.10:g.52602356del , CM000675.1:g.52602356del	GRCh37
NC_000013.9:g.51500357del	NCBI36
NG_028038.1:g.20834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521508.2:c.1208-99del (ALG11) MANE Select	ENSP00000430236.1:n.1208-99del
ENST00000649340.2:c.1208-102del (ALG11)	ENSP00000497184.2:n.1208-102del
ENST00000649651.2:n.5512-99del (ALG11)
ENST00000649708.2:c.275+9077del (ALG11)	ENSP00000497459.2:n.275+9077del
ENST00000650049.2:c.*316-99del (ALG11)	ENSP00000497398.2:n.*316-99del
ENST00000679359.1:c.*960-99del (ALG11)	ENSP00000505579.1:n.*960-99del
ENST00000679495.1:n.44+15758del (ALG11)
ENST00000679544.1:c.276-99del (ALG11)	ENSP00000505560.1:n.276-99del
ENST00000680058.1:n.1111-99del (ALG11)
ENST00000680793.1:n.2200-99del (ALG11)
ENST00000680950.1:n.1335-99del (ALG11)
ENST00000681047.1:c.*933-99del (ALG11)	ENSP00000505034.1:n.*933-99del
ENST00000681053.1:c.977-99del (ALG11)	ENSP00000505307.1:n.977-99del
ENST00000681145.1:c.*1-102del (ALG11)	ENSP00000505163.1:n.*1-102del
ENST00000681226.1:n.396-99del (ALG11)
ENST00000519151.1:n.4144-99del (ALG11)
ENST00000521508.1:c.1208-99del (ALG11)	ENSP00000430236.1:n.1208-99del
ENST00000521776.2:c.-486-99del (UTP14C) MANE Select	ENSP00000428619.1:n.-486-99del
ENST00000523764.1:c.45-99del (ALG11)	ENSP00000429497.1:n.45-99del
NM_001004127.2:c.1208-99del (ALG11)	NP_001004127.2:n.1208-99del
NM_021645.5:c.-486-99del (UTP14C)	NP_067677.4:n.-486-99del
NR_036571.2:n.77-99del (ALG11)
NM_001004127.3:c.1208-99del (ALG11) MANE Select	NP_001004127.2:n.1208-99del
NM_021645.6:c.-486-99del (UTP14C) MANE Select	NP_067677.4:n.-486-99del
NR_036571.3:n.66-99del (ALG11)