Canonical Allele Identifier: CA10300366

Gene: ALG12

Linked Data

• ClinVar Variation Id: 242854
• ClinVar RCV Id: RCV000234879 ; RCV001540726 ; RCV002518413
• dbSNP Id: rs759244819
• ExAC: 22:50298145 GT / G
• gnomAD v2: 22-50298145-GT-G
• gnomAD v3: 22-49904497-GT-G
• gnomAD v4: 22-49904497-GT-G
• MyVariant Identifiers: chr22:g.50298146del (hg19) ; chr22:g.49904498del (hg38)
• PubMed: PMID:25019053

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49904499del , CM000684.2:g.49904499del	GRCh38
NC_000022.10:g.50298147del , CM000684.1:g.50298147del	GRCh37
NC_000022.9:g.48684151del	NCBI36
NG_008927.1:g.18961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.1001del MANE Select	ENSP00000333813.5:p.Asn334ThrfsTer15
ENST00000330817.10:c.1001del	ENSP00000333813.5:p.Asn334ThrfsTer15
ENST00000486602.1:c.207del
ENST00000492791.1:c.524-114del
NM_024105.3:c.1001del	NP_077010.1:p.Asn334ThrfsTer15
XM_011530369.1:c.1001del	XP_011528671.1:p.Asn334ThrfsTer15
XM_011530370.1:c.1001del	XP_011528672.1:p.Asn334ThrfsTer15
XM_011530371.1:c.993-114del	XP_011528673.1:n.993-114del
XM_011530371.2:c.993-114del	XP_011528673.1:n.993-114del
XM_017028936.1:c.1001del	XP_016884425.1:p.Asn334ThrfsTer15
XM_017028937.1:c.1001del	XP_016884426.1:p.Asn334ThrfsTer15
NM_024105.4:c.1001del MANE Select	NP_077010.1:p.Asn334ThrfsTer15