Canonical Allele Identifier: CA688753687

Gene: SLC2A13

Linked Data

• dbSNP Id: rs1160980354
• gnomAD v3: 12-39947067-GTCTAACTTGACTCAGCTC-G
• gnomAD v4: 12-39947067-GTCTAACTTGACTCAGCTC-G
• MyVariant Identifiers: chr12:g.40340870_40340887del (hg19) ; chr12:g.39947068_39947085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39947085_39947102del , CM000674.2:g.39947085_39947102del	GRCh38
NC_000012.11:g.40340887_40340904del , CM000674.1:g.40340887_40340904del	GRCh37
NC_000012.10:g.38627154_38627171del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000280871.9:c.1034+4172_1034+4189del MANE Select	ENSP00000280871.4:n.1034+4172_1034+4189de...
ENST00000280871.8:c.1034+4172_1034+4189del	ENSP00000280871.4:n.1034+4172_1034+4189de...
NM_052885.3:c.1034+4172_1034+4189del	NP_443117.3:n.1034+4172_1034+4189del
XM_011537847.1:c.1034+4172_1034+4189del	XP_011536149.1:n.1034+4172_1034+4189del
XM_011537848.1:c.1034+4172_1034+4189del	XP_011536150.1:n.1034+4172_1034+4189del
XM_011537849.1:c.1034+4172_1034+4189del	XP_011536151.1:n.1034+4172_1034+4189del
XM_011537850.1:c.1034+4172_1034+4189del	XP_011536152.1:n.1034+4172_1034+4189del
XM_011537847.2:c.1034+4172_1034+4189del	XP_011536149.1:n.1034+4172_1034+4189del
XM_011537849.2:c.1034+4172_1034+4189del	XP_011536151.1:n.1034+4172_1034+4189del
XM_011537850.3:c.1034+4172_1034+4189del	XP_011536152.1:n.1034+4172_1034+4189del
XM_017018764.1:c.467+4172_467+4189del	XP_016874253.1:n.467+4172_467+4189del
XM_017018765.1:c.467+4172_467+4189del	XP_016874254.1:n.467+4172_467+4189del
XM_017018766.1:c.314+4172_314+4189del	XP_016874255.1:n.314+4172_314+4189del
XR_001748567.2:n.1311+4172_1311+4189del
XR_001748568.1:n.1311+4172_1311+4189del
NM_052885.4:c.1034+4172_1034+4189del MANE Select	NP_443117.3:n.1034+4172_1034+4189del