Canonical Allele Identifier: CA2030819350

Gene: SLC2A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39947130_39947131delinsGA , CM000674.2:g.39947130_39947131delinsGA	GRCh38
NC_000012.11:g.40340932_40340933delinsGA , CM000674.1:g.40340932_40340933delinsGA	GRCh37
NC_000012.10:g.38627199_38627200delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280871.9:c.1034+4126_1034+4127delinsTC MANE Select	ENSP00000280871.4:n.1034+4126_1034+4127delinsTC
ENST00000280871.8:c.1034+4126_1034+4127delinsTC	ENSP00000280871.4:n.1034+4126_1034+4127delinsTC
NM_052885.3:c.1034+4126_1034+4127delinsTC	NP_443117.3:n.1034+4126_1034+4127delinsTC
XM_011537847.1:c.1034+4126_1034+4127delinsTC	XP_011536149.1:n.1034+4126_1034+4127delinsTC
XM_011537848.1:c.1034+4126_1034+4127delinsTC	XP_011536150.1:n.1034+4126_1034+4127delinsTC
XM_011537849.1:c.1034+4126_1034+4127delinsTC	XP_011536151.1:n.1034+4126_1034+4127delinsTC
XM_011537850.1:c.1034+4126_1034+4127delinsTC	XP_011536152.1:n.1034+4126_1034+4127delinsTC
XM_011537847.2:c.1034+4126_1034+4127delinsTC	XP_011536149.1:n.1034+4126_1034+4127delinsTC
XM_011537849.2:c.1034+4126_1034+4127delinsTC	XP_011536151.1:n.1034+4126_1034+4127delinsTC
XM_011537850.3:c.1034+4126_1034+4127delinsTC	XP_011536152.1:n.1034+4126_1034+4127delinsTC
XM_017018764.1:c.467+4126_467+4127delinsTC	XP_016874253.1:n.467+4126_467+4127delinsTC
XM_017018765.1:c.467+4126_467+4127delinsTC	XP_016874254.1:n.467+4126_467+4127delinsTC
XM_017018766.1:c.314+4126_314+4127delinsTC	XP_016874255.1:n.314+4126_314+4127delinsTC
XR_001748567.2:n.1311+4126_1311+4127delinsTC
XR_001748568.1:n.1311+4126_1311+4127delinsTC
NM_052885.4:c.1034+4126_1034+4127delinsTC MANE Select	NP_443117.3:n.1034+4126_1034+4127delinsTC