Canonical Allele Identifier: CA2466438252

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694296_153694298delinsCCT , CM000685.2:g.153694296_153694298delinsCCT	GRCh38
NC_000023.10:g.152959751_152959753delinsCCT , CM000685.1:g.152959751_152959753delinsCCT	GRCh37
NC_000023.9:g.152612945_152612947delinsCCT	NCBI36
NG_012016.1:g.11000_11002delinsCCT
NG_012016.2:g.11000_11002delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+29_1392+31delinsCCT MANE Select	ENSP00000253122.5:n.1392+29_1392+31delinsCCT
ENST00000253122.9:c.1392+29_1392+31delinsCCT	ENSP00000253122.5:n.1392+29_1392+31delinsCCT
ENST00000413787.1:c.321+29_321+31delinsCCT	ENSP00000400463.1:n.321+29_321+31delinsCCT
ENST00000430077.6:c.1047+29_1047+31delinsCCT	ENSP00000403041.2:n.1047+29_1047+31delinsCCT
ENST00000442457.1:c.446+29_446+31delinsCCT
ENST00000485324.1:n.1566_1568delinsCCT
NM_001142805.1:c.1362+29_1362+31delinsCCT	NP_001136277.1:n.1362+29_1362+31delinsCCT
NM_001142806.1:c.1047+29_1047+31delinsCCT	NP_001136278.1:n.1047+29_1047+31delinsCCT
NM_005629.3:c.1392+29_1392+31delinsCCT	NP_005620.1:n.1392+29_1392+31delinsCCT
NM_005629.4:c.1392+29_1392+31delinsCCT MANE Select	NP_005620.1:n.1392+29_1392+31delinsCCT
NM_001142805.2:c.1362+29_1362+31delinsCCT	NP_001136277.1:n.1362+29_1362+31delinsCCT