Canonical Allele Identifier: CA2011408544

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.241792_241803delinsCCATGGGTGGCT , CM000674.2:g.241792_241803delinsCCATGGGTGGCT	GRCh38
NC_000012.11:g.350958_350969delinsCCATGGGTGGCT , CM000674.1:g.350958_350969delinsCCATGGGTGGCT	GRCh37
NC_000012.10:g.221219_221230delinsCCATGGGTGGCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.478+811_478+822delinsAGCCACCCATGG MANE Select	ENSP00000339260.4:n.478+811_478+822delinsAGCCACCCATGG
ENST00000343164.8:c.478+811_478+822delinsAGCCACCCATGG	ENSP00000339260.4:n.478+811_478+822delinsAGCCACCCATGG
ENST00000445055.6:c.203-3793_203-3782delinsAGCCACCCATGG	ENSP00000407104.2:n.203-3793_203-3782delinsAGCCACCCATGG
ENST00000536842.5:n.531+811_531+822delinsAGCCACCCATGG
ENST00000539260.1:c.*117+811_*117+822delinsAGCCACCCATGG	ENSP00000437386.1:n.*117+811_*117+822delinsAGCCACCCATGG
ENST00000542272.5:c.121+811_121+822delinsAGCCACCCATGG	ENSP00000443466.1:n.121+811_121+822delinsAGCCACCCATGG
ENST00000546319.5:c.203-3793_203-3782delinsAGCCACCCATGG	ENSP00000444606.1:n.203-3793_203-3782delinsAGCCACCCATGG
NM_001190997.2:c.203-3793_203-3782delinsAGCCACCCATGG	NP_001177926.1:n.203-3793_203-3782delinsAGCCACCCATGG
NM_016615.4:c.478+811_478+822delinsAGCCACCCATGG	NP_057699.2:n.478+811_478+822delinsAGCCACCCATGG
XM_005253749.2:c.544+811_544+822delinsAGCCACCCATGG	XP_005253806.1:n.544+811_544+822delinsAGCCACCCATGG
XM_011521012.1:c.121+811_121+822delinsAGCCACCCATGG	XP_011519314.1:n.121+811_121+822delinsAGCCACCCATGG
XM_011521013.1:c.-182+811_-182+822delinsAGCCACCCATGG	XP_011519315.1:n.-182+811_-182+822delinsAGCCACCCATGG
XM_011521014.1:c.-182+811_-182+822delinsAGCCACCCATGG	XP_011519316.1:n.-182+811_-182+822delinsAGCCACCCATGG
XM_011521012.2:c.121+811_121+822delinsAGCCACCCATGG	XP_011519314.1:n.121+811_121+822delinsAGCCACCCATGG
XM_017019844.1:c.478+811_478+822delinsAGCCACCCATGG	XP_016875333.1:n.478+811_478+822delinsAGCCACCCATGG
XM_017019846.1:c.478+811_478+822delinsAGCCACCCATGG	XP_016875335.1:n.478+811_478+822delinsAGCCACCCATGG
XM_017019847.1:c.478+811_478+822delinsAGCCACCCATGG	XP_016875336.1:n.478+811_478+822delinsAGCCACCCATGG
XR_001748849.1:n.531+811_531+822delinsAGCCACCCATGG
XR_002957372.1:n.531+811_531+822delinsAGCCACCCATGG
NM_016615.5:c.478+811_478+822delinsAGCCACCCATGG MANE Select	NP_057699.2:n.478+811_478+822delinsAGCCACCCATGG
NM_001190997.3:c.203-3793_203-3782delinsAGCCACCCATGG	NP_001177926.1:n.203-3793_203-3782delinsAGCCACCCATGG