Canonical Allele Identifier: CA2574392392

Gene: ALG6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63414045del , CM000663.2:g.63414045del	GRCh38
NC_000001.10:g.63879716del , CM000663.1:g.63879716del	GRCh37
NC_000001.9:g.63652304del	NCBI36
NG_008925.2:g.51456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.817-16del MANE Select	ENSP00000263440.5:n.817-16del
ENST00000603108.6:c.817-16del	ENSP00000473934.2:n.817-16del
ENST00000647818.1:c.*123-16del	ENSP00000497667.1:n.*123-16del
ENST00000648964.1:c.*546-16del	ENSP00000497828.1:n.*546-16del
ENST00000649570.1:c.*249-26del	ENSP00000497742.1:n.*249-26del
ENST00000650494.1:c.*119-16del	ENSP00000497170.1:n.*119-16del
ENST00000263440.4:c.823-16del	ENSP00000263440.4:n.823-16del
ENST00000371108.8:c.817-16del	ENSP00000360149.4:n.817-16del
ENST00000465969.5:n.390del
ENST00000603108.5:c.827-1828del	ENSP00000473934.1:n.827-1828del
NM_013339.3:c.817-16del	NP_037471.2:n.817-16del
NM_013339.4:c.817-16del MANE Select	NP_037471.2:n.817-16del