Canonical Allele Identifier: CA2646021608

Gene: ALG6

Linked Data

• gnomAD v4: 1-63415973-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415976del , CM000663.2:g.63415976del	GRCh38
NC_000001.10:g.63881647del , CM000663.1:g.63881647del	GRCh37
NC_000001.9:g.63654235del	NCBI36
NG_008925.2:g.53387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.987+19del MANE Select	ENSP00000263440.5:n.987+19del
ENST00000603108.6:c.*136+19del	ENSP00000473934.2:n.*136+19del
ENST00000647818.1:c.*293+19del	ENSP00000497667.1:n.*293+19del
ENST00000648964.1:c.*716+19del	ENSP00000497828.1:n.*716+19del
ENST00000649570.1:c.*409+19del	ENSP00000497742.1:n.*409+19del
ENST00000650494.1:c.*344+19del	ENSP00000497170.1:n.*344+19del
ENST00000263440.4:c.993+19del	ENSP00000263440.4:n.993+19del
ENST00000371108.8:c.987+19del	ENSP00000360149.4:n.987+19del
ENST00000465969.5:n.576+19del
ENST00000603108.5:c.*65+19del	ENSP00000473934.1:n.*65+19del
NM_013339.3:c.987+19del	NP_037471.2:n.987+19del
NM_013339.4:c.987+19del MANE Select	NP_037471.2:n.987+19del