Canonical Allele Identifier: CA2011408976
Gene: SLC6A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.242308_242312delinsAAATG , CM000674.2:g.242308_242312delinsAAATG GRCh38
NC_000012.11:g.351474_351478delinsAAATG , CM000674.1:g.351474_351478delinsAAATG GRCh37
NC_000012.10:g.221735_221739delinsAAATG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.478+302_478+306delinsCATTT MANE Select ENSP00000339260.4:n.478+302_478+306delinsCATTT
ENST00000343164.8:c.478+302_478+306delinsCATTT ENSP00000339260.4:n.478+302_478+306delinsCATTT
ENST00000445055.6:c.203-4302_203-4298delinsCATTT ENSP00000407104.2:n.203-4302_203-4298delinsCATTT
ENST00000536842.5:n.531+302_531+306delinsCATTT
ENST00000539260.1:c.*117+302_*117+306delinsCATTT ENSP00000437386.1:n.*117+302_*117+306delinsCATTT
ENST00000542272.5:c.121+302_121+306delinsCATTT ENSP00000443466.1:n.121+302_121+306delinsCATTT
ENST00000546319.5:c.203-4302_203-4298delinsCATTT ENSP00000444606.1:n.203-4302_203-4298delinsCATTT
NM_001190997.2:c.203-4302_203-4298delinsCATTT NP_001177926.1:n.203-4302_203-4298delinsCATTT
NM_016615.4:c.478+302_478+306delinsCATTT NP_057699.2:n.478+302_478+306delinsCATTT
XM_005253749.2:c.544+302_544+306delinsCATTT XP_005253806.1:n.544+302_544+306delinsCATTT
XM_011521012.1:c.121+302_121+306delinsCATTT XP_011519314.1:n.121+302_121+306delinsCATTT
XM_011521013.1:c.-182+302_-182+306delinsCATTT XP_011519315.1:n.-182+302_-182+306delinsCATTT
XM_011521014.1:c.-182+302_-182+306delinsCATTT XP_011519316.1:n.-182+302_-182+306delinsCATTT
XM_011521012.2:c.121+302_121+306delinsCATTT XP_011519314.1:n.121+302_121+306delinsCATTT
XM_017019844.1:c.478+302_478+306delinsCATTT XP_016875333.1:n.478+302_478+306delinsCATTT
XM_017019846.1:c.478+302_478+306delinsCATTT XP_016875335.1:n.478+302_478+306delinsCATTT
XM_017019847.1:c.478+302_478+306delinsCATTT XP_016875336.1:n.478+302_478+306delinsCATTT
XR_001748849.1:n.531+302_531+306delinsCATTT
XR_002957372.1:n.531+302_531+306delinsCATTT
NM_016615.5:c.478+302_478+306delinsCATTT MANE Select NP_057699.2:n.478+302_478+306delinsCATTT
NM_001190997.3:c.203-4302_203-4298delinsCATTT NP_001177926.1:n.203-4302_203-4298delinsCATTT