Canonical Allele Identifier: CA754007655

Gene: ALG12

Linked Data

• dbSNP Id: rs1295414875
• gnomAD v3: 22-49913474-A-AGGAACGTC
• gnomAD v4: 22-49913474-A-AGGAACGTC
• MyVariant Identifiers: chr22:g.50307122_50307123insGGAACGTC (hg19) ; chr22:g.49913474_49913475insGGAACGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913475_49913482dup , CM000684.2:g.49913475_49913482dup	GRCh38
NC_000022.10:g.50307123_50307130dup , CM000684.1:g.50307123_50307130dup	GRCh37
NC_000022.9:g.48693127_48693134dup	NCBI36
NG_008927.1:g.9977_9984dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000330817.11:c.198_205dup MANE Select	ENSP00000333813.5:p.Leu69ArgfsTer8
ENST00000330817.10:c.198_205dup	ENSP00000333813.5:p.Leu69ArgfsTer8
NM_024105.3:c.198_205dup	NP_077010.1:p.Leu69ArgfsTer8
XM_011530369.1:c.198_205dup	XP_011528671.1:p.Leu69ArgfsTer8
XM_011530370.1:c.198_205dup	XP_011528672.1:p.Leu69ArgfsTer8
XM_011530371.1:c.198_205dup	XP_011528673.1:p.Leu69ArgfsTer8
XM_011530371.2:c.198_205dup	XP_011528673.1:p.Leu69ArgfsTer8
XM_017028936.1:c.198_205dup	XP_016884425.1:p.Leu69ArgfsTer8
XM_017028937.1:c.198_205dup	XP_016884426.1:p.Leu69ArgfsTer8
NM_024105.4:c.198_205dup MANE Select	NP_077010.1:p.Leu69ArgfsTer8