Canonical Allele Identifier: CA2011409168

Gene: SLC6A13

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.242620_242622delinsTCC , CM000674.2:g.242620_242622delinsTCC	GRCh38
NC_000012.11:g.351786_351788delinsTCC , CM000674.1:g.351786_351788delinsTCC	GRCh37
NC_000012.10:g.222047_222049delinsTCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343164.9:c.470_472delinsGGA MANE Select	ENSP00000339260.4:p.Trp157=
ENST00000343164.8:c.470_472delinsGGA	ENSP00000339260.4:p.Trp157=
ENST00000445055.6:c.203-4612_203-4610delinsGGA	ENSP00000407104.2:n.203-4612_203-4610delinsGGA
ENST00000536842.5:n.523_525delinsGGA
ENST00000539260.1:c.*109_*111delinsGGA	ENSP00000437386.1:n.*109_*111delinsGGA
ENST00000542272.5:c.113_115delinsGGA	ENSP00000443466.1:p.Trp38=
ENST00000546319.5:c.203-4612_203-4610delinsGGA	ENSP00000444606.1:n.203-4612_203-4610delinsGGA
NM_001190997.2:c.203-4612_203-4610delinsGGA	NP_001177926.1:n.203-4612_203-4610delinsGGA
NM_016615.4:c.470_472delinsGGA	NP_057699.2:p.Trp157=
XM_005253749.2:c.536_538delinsGGA	XP_005253806.1:p.Trp179=
XM_011521012.1:c.113_115delinsGGA	XP_011519314.1:p.Trp38=
XM_011521013.1:c.-190_-188delinsGGA	XP_011519315.1:n.-190_-188delinsGGA
XM_011521014.1:c.-190_-188delinsGGA	XP_011519316.1:n.-190_-188delinsGGA
XM_011521012.2:c.113_115delinsGGA	XP_011519314.1:p.Trp38=
XM_017019844.1:c.470_472delinsGGA	XP_016875333.1:p.Trp157=
XM_017019846.1:c.470_472delinsGGA	XP_016875335.1:p.Trp157=
XM_017019847.1:c.470_472delinsGGA	XP_016875336.1:p.Trp157=
XR_001748849.1:n.523_525delinsGGA
XR_002957372.1:n.523_525delinsGGA
NM_016615.5:c.470_472delinsGGA MANE Select	NP_057699.2:p.Trp157=
NM_001190997.3:c.203-4612_203-4610delinsGGA	NP_001177926.1:n.203-4612_203-4610delinsGGA