Canonical Allele Identifier: CA2646021603

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415880-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415881del , CM000663.2:g.63415881del	GRCh38
NC_000001.10:g.63881552del , CM000663.1:g.63881552del	GRCh37
NC_000001.9:g.63654140del	NCBI36
NG_008925.2:g.53292del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.911del MANE Select	ENSP00000263440.5:p.Ser304LeufsTer4
ENST00000603108.6:c.*60del	ENSP00000473934.2:n.*60del
ENST00000647818.1:c.*217del	ENSP00000497667.1:n.*217del
ENST00000648964.1:c.*640del	ENSP00000497828.1:n.*640del
ENST00000649570.1:c.*333del	ENSP00000497742.1:n.*333del
ENST00000650494.1:c.*268del	ENSP00000497170.1:n.*268del
ENST00000263440.4:c.917del	ENSP00000263440.4:p.Ser306LeufsTer4
ENST00000371108.8:c.911del	ENSP00000360149.4:p.Ser304LeufsTer4
ENST00000465969.5:n.500del
ENST00000603108.5:c.835del	ENSP00000473934.1:p.Leu279TyrfsTer27
NM_013339.3:c.911del	NP_037471.2:p.Ser304LeufsTer4
NM_013339.4:c.911del MANE Select	NP_037471.2:p.Ser304LeufsTer4