Canonical Allele Identifier: CA737741879

Gene: ALG6

Linked Data

• dbSNP Id: rs1209749584
• gnomAD v3: 1-63415774-AAAT-A
• gnomAD v4: 1-63415774-AAAT-A
• MyVariant Identifiers: chr1:g.63881446_63881448del (hg19) ; chr1:g.63415775_63415777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63415779_63415781del , CM000663.2:g.63415779_63415781del	GRCh38
NC_000001.10:g.63881450_63881452del , CM000663.1:g.63881450_63881452del	GRCh37
NC_000001.9:g.63654038_63654040del	NCBI36
NG_008925.2:g.53190_53192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263440.6:c.903-94_903-92del MANE Select	ENSP00000263440.5:n.903-94_903-92del
ENST00000603108.6:c.903-39_903-37del	ENSP00000473934.2:n.903-39_903-37del
ENST00000647818.1:c.*209-94_*209-92del	ENSP00000497667.1:n.*209-94_*209-92del
ENST00000648964.1:c.*632-94_*632-92del	ENSP00000497828.1:n.*632-94_*632-92del
ENST00000649570.1:c.*325-94_*325-92del	ENSP00000497742.1:n.*325-94_*325-92del
ENST00000650494.1:c.*205-39_*205-37del	ENSP00000497170.1:n.*205-39_*205-37del
ENST00000263440.4:c.909-94_909-92del	ENSP00000263440.4:n.909-94_909-92del
ENST00000371108.8:c.903-94_903-92del	ENSP00000360149.4:n.903-94_903-92del
ENST00000465969.5:n.492-94_492-92del
ENST00000603108.5:c.827-94_827-92del	ENSP00000473934.1:n.827-94_827-92del
NM_013339.3:c.903-94_903-92del	NP_037471.2:n.903-94_903-92del
NM_013339.4:c.903-94_903-92del MANE Select	NP_037471.2:n.903-94_903-92del