Canonical Allele Identifier: CA2011408971

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242306_242307delinsAC , CM000674.2:g.242306_242307delinsAC	GRCh38
NC_000012.11:g.351472_351473delinsAC , CM000674.1:g.351472_351473delinsAC	GRCh37
NC_000012.10:g.221733_221734delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343164.9:c.478+307_478+308delinsGT MANE Select	ENSP00000339260.4:n.478+307_478+308delins...
ENST00000343164.8:c.478+307_478+308delinsGT	ENSP00000339260.4:n.478+307_478+308delins...
ENST00000445055.6:c.203-4297_203-4296delinsGT	ENSP00000407104.2:n.203-4297_203-4296deli...
ENST00000536842.5:n.531+307_531+308delinsGT
ENST00000539260.1:c.*117+307_*117+308delinsGT	ENSP00000437386.1:n.*117+307_*117+308deli...
ENST00000542272.5:c.121+307_121+308delinsGT	ENSP00000443466.1:n.121+307_121+308delins...
ENST00000546319.5:c.203-4297_203-4296delinsGT	ENSP00000444606.1:n.203-4297_203-4296deli...
NM_001190997.2:c.203-4297_203-4296delinsGT	NP_001177926.1:n.203-4297_203-4296delinsG...
NM_016615.4:c.478+307_478+308delinsGT	NP_057699.2:n.478+307_478+308delinsGT
XM_005253749.2:c.544+307_544+308delinsGT	XP_005253806.1:n.544+307_544+308delinsGT
XM_011521012.1:c.121+307_121+308delinsGT	XP_011519314.1:n.121+307_121+308delinsGT
XM_011521013.1:c.-182+307_-182+308delinsGT	XP_011519315.1:n.-182+307_-182+308delinsG...
XM_011521014.1:c.-182+307_-182+308delinsGT	XP_011519316.1:n.-182+307_-182+308delinsG...
XM_011521012.2:c.121+307_121+308delinsGT	XP_011519314.1:n.121+307_121+308delinsGT
XM_017019844.1:c.478+307_478+308delinsGT	XP_016875333.1:n.478+307_478+308delinsGT
XM_017019846.1:c.478+307_478+308delinsGT	XP_016875335.1:n.478+307_478+308delinsGT
XM_017019847.1:c.478+307_478+308delinsGT	XP_016875336.1:n.478+307_478+308delinsGT
XR_001748849.1:n.531+307_531+308delinsGT
XR_002957372.1:n.531+307_531+308delinsGT
NM_016615.5:c.478+307_478+308delinsGT MANE Select	NP_057699.2:n.478+307_478+308delinsGT
NM_001190997.3:c.203-4297_203-4296delinsGT	NP_001177926.1:n.203-4297_203-4296delinsG...