Canonical Allele Identifier: CA2573159333

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1477604
• ClinVar RCV Id: RCV001971676
• dbSNP Id: rs2148364040

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694225_153694236del , CM000685.2:g.153694225_153694236del	GRCh38
NC_000023.10:g.152959680_152959691del , CM000685.1:g.152959680_152959691del	GRCh37
NC_000023.9:g.152612874_152612885del	NCBI36
NG_012016.1:g.10929_10940del
NG_012016.2:g.10929_10940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1350_1361del MANE Select	ENSP00000253122.5:p.Cys451_Cys454del
ENST00000253122.9:c.1350_1361del	ENSP00000253122.5:p.Cys451_Cys454del
ENST00000413787.1:c.279_290del	ENSP00000400463.1:p.Cys94_Cys97del
ENST00000430077.6:c.1005_1016del	ENSP00000403041.2:p.Cys336_Cys339del
ENST00000442457.1:c.404_415del
ENST00000485324.1:n.1495_1506del
NM_001142805.1:c.1320_1331del	NP_001136277.1:p.Cys441_Cys444del
NM_001142806.1:c.1005_1016del	NP_001136278.1:p.Cys336_Cys339del
NM_005629.3:c.1350_1361del	NP_005620.1:p.Cys451_Cys454del
NM_005629.4:c.1350_1361del MANE Select	NP_005620.1:p.Cys451_Cys454del
NM_001142805.2:c.1320_1331del	NP_001136277.1:p.Cys441_Cys444del