Canonical Allele Identifier: CA10300486

Gene: ALG12

Linked Data

• ClinVar Variation Id: 2626751
• ClinVar RCV Id: RCV003348535
• dbSNP Id: rs762397075
• ExAC: 22:50302890 A / AC
• gnomAD v2: 22-50302890-A-AC
• gnomAD v3: 22-49909242-A-AC
• gnomAD v4: 22-49909242-A-AC
• MyVariant Identifiers: chr22:g.50302891_50302892insC (hg19) ; chr22:g.50302890_50302891insC (hg19) ; chr22:g.49909242_49909243insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49909248dup , CM000684.2:g.49909248dup	GRCh38
NC_000022.10:g.50302896dup , CM000684.1:g.50302896dup	GRCh37
NC_000022.9:g.48688900dup	NCBI36
NG_008927.1:g.14216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.768+1dup
ENST00000330817.10:c.768+1dup
ENST00000492791.1:c.299+1dup
NM_024105.3:c.768+1dup
XM_011530369.1:c.768+1dup
XM_011530370.1:c.768+1dup
XM_011530371.1:c.768+1dup
XM_011530371.2:c.768+1dup
XM_017028936.1:c.768+1dup
XM_017028937.1:c.768+1dup
NM_024105.4:c.768+1dup