Canonical Allele Identifier: CA2011408886

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242198_242199delinsGT , CM000674.2:g.242198_242199delinsGT	GRCh38
NC_000012.11:g.351364_351365delinsGT , CM000674.1:g.351364_351365delinsGT	GRCh37
NC_000012.10:g.221625_221626delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.478+415_478+416delinsAC MANE Select	ENSP00000339260.4:n.478+415_478+416delinsAC
ENST00000343164.8:c.478+415_478+416delinsAC	ENSP00000339260.4:n.478+415_478+416delinsAC
ENST00000445055.6:c.203-4189_203-4188delinsAC	ENSP00000407104.2:n.203-4189_203-4188delinsAC
ENST00000536842.5:n.531+415_531+416delinsAC
ENST00000539260.1:c.*117+415_*117+416delinsAC	ENSP00000437386.1:n.*117+415_*117+416delinsAC
ENST00000542272.5:c.121+415_121+416delinsAC	ENSP00000443466.1:n.121+415_121+416delinsAC
ENST00000546319.5:c.203-4189_203-4188delinsAC	ENSP00000444606.1:n.203-4189_203-4188delinsAC
NM_001190997.2:c.203-4189_203-4188delinsAC	NP_001177926.1:n.203-4189_203-4188delinsAC
NM_016615.4:c.478+415_478+416delinsAC	NP_057699.2:n.478+415_478+416delinsAC
XM_005253749.2:c.544+415_544+416delinsAC	XP_005253806.1:n.544+415_544+416delinsAC
XM_011521012.1:c.121+415_121+416delinsAC	XP_011519314.1:n.121+415_121+416delinsAC
XM_011521013.1:c.-182+415_-182+416delinsAC	XP_011519315.1:n.-182+415_-182+416delinsAC
XM_011521014.1:c.-182+415_-182+416delinsAC	XP_011519316.1:n.-182+415_-182+416delinsAC
XM_011521012.2:c.121+415_121+416delinsAC	XP_011519314.1:n.121+415_121+416delinsAC
XM_017019844.1:c.478+415_478+416delinsAC	XP_016875333.1:n.478+415_478+416delinsAC
XM_017019846.1:c.478+415_478+416delinsAC	XP_016875335.1:n.478+415_478+416delinsAC
XM_017019847.1:c.478+415_478+416delinsAC	XP_016875336.1:n.478+415_478+416delinsAC
XR_001748849.1:n.531+415_531+416delinsAC
XR_002957372.1:n.531+415_531+416delinsAC
NM_016615.5:c.478+415_478+416delinsAC MANE Select	NP_057699.2:n.478+415_478+416delinsAC
NM_001190997.3:c.203-4189_203-4188delinsAC	NP_001177926.1:n.203-4189_203-4188delinsAC