Canonical Allele Identifier: CA2697552460

Gene: ALG6

Linked Data

• ClinVar Variation Id: 2752249
• ClinVar RCV Id: RCV003504804

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415944_63415954del , CM000663.2:g.63415944_63415954del	GRCh38
NC_000001.10:g.63881615_63881625del , CM000663.1:g.63881615_63881625del	GRCh37
NC_000001.9:g.63654203_63654213del	NCBI36
NG_008925.2:g.53355_53365del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.974_984del MANE Select	ENSP00000263440.5:p.Phe325SerfsTer3
ENST00000603108.6:c.*123_*133del	ENSP00000473934.2:n.*123_*133del
ENST00000647818.1:c.*280_*290del	ENSP00000497667.1:n.*280_*290del
ENST00000648964.1:c.*703_*713del	ENSP00000497828.1:n.*703_*713del
ENST00000649570.1:c.*396_*406del	ENSP00000497742.1:n.*396_*406del
ENST00000650494.1:c.*331_*341del	ENSP00000497170.1:n.*331_*341del
ENST00000263440.4:c.980_990del	ENSP00000263440.4:p.Phe327SerfsTer3
ENST00000371108.8:c.974_984del	ENSP00000360149.4:p.Phe325SerfsTer3
ENST00000465969.5:n.563_573del
ENST00000603108.5:c.*52_*62del	ENSP00000473934.1:n.*52_*62del
NM_013339.3:c.974_984del	NP_037471.2:p.Phe325SerfsTer3
NM_013339.4:c.974_984del MANE Select	NP_037471.2:p.Phe325SerfsTer3