Canonical Allele Identifier: CA2011408975
Gene: SLC6A13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.242307_242311delinsCAAAT , CM000674.2:g.242307_242311delinsCAAAT GRCh38
NC_000012.11:g.351473_351477delinsCAAAT , CM000674.1:g.351473_351477delinsCAAAT GRCh37
NC_000012.10:g.221734_221738delinsCAAAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000343164.9:c.478+303_478+307delinsATTTG MANE Select ENSP00000339260.4:n.478+303_478+307delinsATTTG
ENST00000343164.8:c.478+303_478+307delinsATTTG ENSP00000339260.4:n.478+303_478+307delinsATTTG
ENST00000445055.6:c.203-4301_203-4297delinsATTTG ENSP00000407104.2:n.203-4301_203-4297delinsATTTG
ENST00000536842.5:n.531+303_531+307delinsATTTG
ENST00000539260.1:c.*117+303_*117+307delinsATTTG ENSP00000437386.1:n.*117+303_*117+307delinsATTTG
ENST00000542272.5:c.121+303_121+307delinsATTTG ENSP00000443466.1:n.121+303_121+307delinsATTTG
ENST00000546319.5:c.203-4301_203-4297delinsATTTG ENSP00000444606.1:n.203-4301_203-4297delinsATTTG
NM_001190997.2:c.203-4301_203-4297delinsATTTG NP_001177926.1:n.203-4301_203-4297delinsATTTG
NM_016615.4:c.478+303_478+307delinsATTTG NP_057699.2:n.478+303_478+307delinsATTTG
XM_005253749.2:c.544+303_544+307delinsATTTG XP_005253806.1:n.544+303_544+307delinsATTTG
XM_011521012.1:c.121+303_121+307delinsATTTG XP_011519314.1:n.121+303_121+307delinsATTTG
XM_011521013.1:c.-182+303_-182+307delinsATTTG XP_011519315.1:n.-182+303_-182+307delinsATTTG
XM_011521014.1:c.-182+303_-182+307delinsATTTG XP_011519316.1:n.-182+303_-182+307delinsATTTG
XM_011521012.2:c.121+303_121+307delinsATTTG XP_011519314.1:n.121+303_121+307delinsATTTG
XM_017019844.1:c.478+303_478+307delinsATTTG XP_016875333.1:n.478+303_478+307delinsATTTG
XM_017019846.1:c.478+303_478+307delinsATTTG XP_016875335.1:n.478+303_478+307delinsATTTG
XM_017019847.1:c.478+303_478+307delinsATTTG XP_016875336.1:n.478+303_478+307delinsATTTG
XR_001748849.1:n.531+303_531+307delinsATTTG
XR_002957372.1:n.531+303_531+307delinsATTTG
NM_016615.5:c.478+303_478+307delinsATTTG MANE Select NP_057699.2:n.478+303_478+307delinsATTTG
NM_001190997.3:c.203-4301_203-4297delinsATTTG NP_001177926.1:n.203-4301_203-4297delinsATTTG