Canonical Allele Identifier: CA2646021604

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415885-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415890del , CM000663.2:g.63415890del	GRCh38
NC_000001.10:g.63881561del , CM000663.1:g.63881561del	GRCh37
NC_000001.9:g.63654149del	NCBI36
NG_008925.2:g.53301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263440.6:c.920del MANE Select	ENSP00000263440.5:p.Leu307Ter
ENST00000603108.6:c.*69del	ENSP00000473934.2:n.*69del
ENST00000647818.1:c.*226del	ENSP00000497667.1:n.*226del
ENST00000648964.1:c.*649del	ENSP00000497828.1:n.*649del
ENST00000649570.1:c.*342del	ENSP00000497742.1:n.*342del
ENST00000650494.1:c.*277del	ENSP00000497170.1:n.*277del
ENST00000263440.4:c.926del	ENSP00000263440.4:p.Leu309Ter
ENST00000371108.8:c.920del	ENSP00000360149.4:p.Leu307Ter
ENST00000465969.5:n.509del
ENST00000603108.5:c.844del	ENSP00000473934.1:p.Ter282GluextTer24
NM_013339.3:c.920del	NP_037471.2:p.Leu307Ter
NM_013339.4:c.920del MANE Select	NP_037471.2:p.Leu307Ter