Canonical Allele Identifier: CA604622511

Gene: SLC2A13

Linked Data

• dbSNP Id: rs1162885098
• gnomAD v2: 12-40354288-TCTC-T
• gnomAD v3: 12-39960486-TCTC-T
• gnomAD v4: 12-39960486-TCTC-T
• MyVariant Identifiers: chr12:g.40354289_40354291del (hg19) ; chr12:g.39960487_39960489del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39960489_39960491del , CM000674.2:g.39960489_39960491del	GRCh38
NC_000012.11:g.40354291_40354293del , CM000674.1:g.40354291_40354293del	GRCh37
NC_000012.10:g.38640558_38640560del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000280871.9:c.926-9124_926-9122del MANE Select	ENSP00000280871.4:n.926-9124_926-9122del
ENST00000280871.8:c.926-9124_926-9122del	ENSP00000280871.4:n.926-9124_926-9122del
ENST00000380858.1:c.926-9124_926-9122del	ENSP00000370239.1:n.926-9124_926-9122del
NM_052885.3:c.926-9124_926-9122del	NP_443117.3:n.926-9124_926-9122del
XM_011537847.1:c.926-9124_926-9122del	XP_011536149.1:n.926-9124_926-9122del
XM_011537848.1:c.926-9124_926-9122del	XP_011536150.1:n.926-9124_926-9122del
XM_011537849.1:c.926-9124_926-9122del	XP_011536151.1:n.926-9124_926-9122del
XM_011537850.1:c.926-9124_926-9122del	XP_011536152.1:n.926-9124_926-9122del
XM_011537847.2:c.926-9124_926-9122del	XP_011536149.1:n.926-9124_926-9122del
XM_011537849.2:c.926-9124_926-9122del	XP_011536151.1:n.926-9124_926-9122del
XM_011537850.3:c.926-9124_926-9122del	XP_011536152.1:n.926-9124_926-9122del
XM_017018764.1:c.359-9124_359-9122del	XP_016874253.1:n.359-9124_359-9122del
XM_017018765.1:c.359-9124_359-9122del	XP_016874254.1:n.359-9124_359-9122del
XM_017018766.1:c.206-9124_206-9122del	XP_016874255.1:n.206-9124_206-9122del
XR_001748567.2:n.1203-9124_1203-9122del
XR_001748568.1:n.1203-9124_1203-9122del
NM_052885.4:c.926-9124_926-9122del MANE Select	NP_443117.3:n.926-9124_926-9122del