Canonical Allele Identifier: CA754008247

Gene: ALG12

Linked Data

• dbSNP Id: rs1399280940
• gnomAD v3: 22-49913995-G-GA
• gnomAD v4: 22-49913995-G-GA
• MyVariant Identifiers: chr22:g.50307643_50307644insA (hg19) ; chr22:g.49913995_49913996insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49914001dup , CM000684.2:g.49914001dup	GRCh38
NC_000022.10:g.50307649dup , CM000684.1:g.50307649dup	GRCh37
NC_000022.9:g.48693653dup	NCBI36
NG_008927.1:g.9463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.-78-153dup MANE Select	ENSP00000333813.5:n.-78-153dup
ENST00000330817.10:c.-78-153dup	ENSP00000333813.5:n.-78-153dup
NM_024105.3:c.-78-153dup	NP_077010.1:n.-78-153dup
XM_011530369.1:c.-78-153dup	XP_011528671.1:n.-78-153dup
XM_011530370.1:c.-78-153dup	XP_011528672.1:n.-78-153dup
XM_011530371.1:c.-78-153dup	XP_011528673.1:n.-78-153dup
XM_011530371.2:c.-78-153dup	XP_011528673.1:n.-78-153dup
XM_017028936.1:c.-78-153dup	XP_016884425.1:n.-78-153dup
XM_017028937.1:c.-78-153dup	XP_016884426.1:n.-78-153dup
NM_024105.4:c.-78-153dup MANE Select	NP_077010.1:n.-78-153dup