Canonical Allele Identifier: CA2528261493

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242595_242596insATGGAGAG , CM000674.2:g.242595_242596insATGGAGAG	GRCh38
NC_000012.11:g.351761_351762insATGGAGAG , CM000674.1:g.351761_351762insATGGAGAG	GRCh37
NC_000012.10:g.222022_222023insATGGAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.478+18_478+19insCTCTCCAT MANE Select	ENSP00000339260.4:n.478+18_478+19insCTCTCCAT
ENST00000343164.8:c.478+18_478+19insCTCTCCAT	ENSP00000339260.4:n.478+18_478+19insCTCTCCAT
ENST00000445055.6:c.203-4586_203-4585insCTCTCCAT	ENSP00000407104.2:n.203-4586_203-4585insCTCTCCAT
ENST00000536842.5:n.531+18_531+19insCTCTCCAT
ENST00000539260.1:c.*117+18_*117+19insCTCTCCAT	ENSP00000437386.1:n.*117+18_*117+19insCTCTCCAT
ENST00000542272.5:c.121+18_121+19insCTCTCCAT	ENSP00000443466.1:n.121+18_121+19insCTCTCCAT
ENST00000546319.5:c.203-4586_203-4585insCTCTCCAT	ENSP00000444606.1:n.203-4586_203-4585insCTCTCCAT
NM_001190997.2:c.203-4586_203-4585insCTCTCCAT	NP_001177926.1:n.203-4586_203-4585insCTCTCCAT
NM_016615.4:c.478+18_478+19insCTCTCCAT	NP_057699.2:n.478+18_478+19insCTCTCCAT
XM_005253749.2:c.544+18_544+19insCTCTCCAT	XP_005253806.1:n.544+18_544+19insCTCTCCAT
XM_011521012.1:c.121+18_121+19insCTCTCCAT	XP_011519314.1:n.121+18_121+19insCTCTCCAT
XM_011521013.1:c.-182+18_-182+19insCTCTCCAT	XP_011519315.1:n.-182+18_-182+19insCTCTCCAT
XM_011521014.1:c.-182+18_-182+19insCTCTCCAT	XP_011519316.1:n.-182+18_-182+19insCTCTCCAT
XM_011521012.2:c.121+18_121+19insCTCTCCAT	XP_011519314.1:n.121+18_121+19insCTCTCCAT
XM_017019844.1:c.478+18_478+19insCTCTCCAT	XP_016875333.1:n.478+18_478+19insCTCTCCAT
XM_017019846.1:c.478+18_478+19insCTCTCCAT	XP_016875335.1:n.478+18_478+19insCTCTCCAT
XM_017019847.1:c.478+18_478+19insCTCTCCAT	XP_016875336.1:n.478+18_478+19insCTCTCCAT
XR_001748849.1:n.531+18_531+19insCTCTCCAT
XR_002957372.1:n.531+18_531+19insCTCTCCAT
NM_016615.5:c.478+18_478+19insCTCTCCAT MANE Select	NP_057699.2:n.478+18_478+19insCTCTCCAT
NM_001190997.3:c.203-4586_203-4585insCTCTCCAT	NP_001177926.1:n.203-4586_203-4585insCTCTCCAT