Canonical Allele Identifier: CA2577757015

Gene: ALG12

Linked Data

• gnomAD v4: 22-49913689-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913691del , CM000684.2:g.49913691del	GRCh38
NC_000022.10:g.50307339del , CM000684.1:g.50307339del	GRCh37
NC_000022.9:g.48693343del	NCBI36
NG_008927.1:g.9769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.76del MANE Select	ENSP00000333813.5:p.Val26SerfsTer?
ENST00000330817.10:c.76del	ENSP00000333813.5:p.Val26SerfsTer?
NM_024105.3:c.76del	NP_077010.1:p.Val26SerfsTer?
XM_011530369.1:c.76del	XP_011528671.1:p.Val26SerfsTer?
XM_011530370.1:c.76del	XP_011528672.1:p.Val26SerfsTer?
XM_011530371.1:c.76del	XP_011528673.1:p.Val26SerfsTer?
XM_011530371.2:c.76del	XP_011528673.1:p.Val26SerfsTer?
XM_017028936.1:c.76del	XP_016884425.1:p.Val26SerfsTer?
XM_017028937.1:c.76del	XP_016884426.1:p.Val26SerfsTer?
NM_024105.4:c.76del MANE Select	NP_077010.1:p.Val26SerfsTer?