Canonical Allele Identifier: CA2011408958
Gene: SLC6A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.242290_242293delinsAGAG , CM000674.2:g.242290_242293delinsAGAG GRCh38
NC_000012.11:g.351456_351459delinsAGAG , CM000674.1:g.351456_351459delinsAGAG GRCh37
NC_000012.10:g.221717_221720delinsAGAG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.478+321_478+324delinsCTCT MANE Select ENSP00000339260.4:n.478+321_478+324delinsCTCT
ENST00000343164.8:c.478+321_478+324delinsCTCT ENSP00000339260.4:n.478+321_478+324delinsCTCT
ENST00000445055.6:c.203-4283_203-4280delinsCTCT ENSP00000407104.2:n.203-4283_203-4280delinsCTCT
ENST00000536842.5:n.531+321_531+324delinsCTCT
ENST00000539260.1:c.*117+321_*117+324delinsCTCT ENSP00000437386.1:n.*117+321_*117+324delinsCTCT
ENST00000542272.5:c.121+321_121+324delinsCTCT ENSP00000443466.1:n.121+321_121+324delinsCTCT
ENST00000546319.5:c.203-4283_203-4280delinsCTCT ENSP00000444606.1:n.203-4283_203-4280delinsCTCT
NM_001190997.2:c.203-4283_203-4280delinsCTCT NP_001177926.1:n.203-4283_203-4280delinsCTCT
NM_016615.4:c.478+321_478+324delinsCTCT NP_057699.2:n.478+321_478+324delinsCTCT
XM_005253749.2:c.544+321_544+324delinsCTCT XP_005253806.1:n.544+321_544+324delinsCTCT
XM_011521012.1:c.121+321_121+324delinsCTCT XP_011519314.1:n.121+321_121+324delinsCTCT
XM_011521013.1:c.-182+321_-182+324delinsCTCT XP_011519315.1:n.-182+321_-182+324delinsCTCT
XM_011521014.1:c.-182+321_-182+324delinsCTCT XP_011519316.1:n.-182+321_-182+324delinsCTCT
XM_011521012.2:c.121+321_121+324delinsCTCT XP_011519314.1:n.121+321_121+324delinsCTCT
XM_017019844.1:c.478+321_478+324delinsCTCT XP_016875333.1:n.478+321_478+324delinsCTCT
XM_017019846.1:c.478+321_478+324delinsCTCT XP_016875335.1:n.478+321_478+324delinsCTCT
XM_017019847.1:c.478+321_478+324delinsCTCT XP_016875336.1:n.478+321_478+324delinsCTCT
XR_001748849.1:n.531+321_531+324delinsCTCT
XR_002957372.1:n.531+321_531+324delinsCTCT
NM_016615.5:c.478+321_478+324delinsCTCT MANE Select NP_057699.2:n.478+321_478+324delinsCTCT
NM_001190997.3:c.203-4283_203-4280delinsCTCT NP_001177926.1:n.203-4283_203-4280delinsCTCT