Canonical Allele Identifier: CA10300735

Gene: ALG12

Linked Data

• dbSNP Id: rs766871710
• ExAC: 22:50307308 TCTC / T
• gnomAD v2: 22-50307308-TCTC-T
• gnomAD v3: 22-49913660-TCTC-T
• gnomAD v4: 22-49913660-TCTC-T
• MyVariant Identifiers: chr22:g.50307309_50307311del (hg19) ; chr22:g.49913661_49913663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.49913665_49913667del , CM000684.2:g.49913665_49913667del	GRCh38
NC_000022.10:g.50307313_50307315del , CM000684.1:g.50307313_50307315del	GRCh37
NC_000022.9:g.48693317_48693319del	NCBI36
NG_008927.1:g.9796_9798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330817.11:c.103_105del MANE Select	ENSP00000333813.5:p.Glu35del
ENST00000330817.10:c.103_105del	ENSP00000333813.5:p.Glu35del
NM_024105.3:c.103_105del	NP_077010.1:p.Glu35del
XM_011530369.1:c.103_105del	XP_011528671.1:p.Glu35del
XM_011530370.1:c.103_105del	XP_011528672.1:p.Glu35del
XM_011530371.1:c.103_105del	XP_011528673.1:p.Glu35del
XM_011530371.2:c.103_105del	XP_011528673.1:p.Glu35del
XM_017028936.1:c.103_105del	XP_016884425.1:p.Glu35del
XM_017028937.1:c.103_105del	XP_016884426.1:p.Glu35del
NM_024105.4:c.103_105del MANE Select	NP_077010.1:p.Glu35del