Canonical Allele Identifier: CA658799891
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 533702
ClinVar RCV Id: RCV000640934
dbSNP Id: rs1557043770
ERepo: CA658799891/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688627_153688711delinsCCGTGT , CM000685.2:g.153688627_153688711delinsCCGTGT GRCh38
NC_000023.10:g.152954082_152954166delinsCCGTGT , CM000685.1:g.152954082_152954166delinsCCGTGT GRCh37
NC_000023.9:g.152607276_152607360delinsCCGTGT NCBI36
NG_012016.1:g.5331_5415delinsCCGTGT
NG_012016.2:g.5331_5415delinsCCGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.53_137delinsCCGTGT (SLC6A8) MANE Select ENSP00000253122.5:p.Lys18ThrfsTer?
ENST00000253122.9:c.53_137delinsCCGTGT (SLC6A8) ENSP00000253122.5:p.Lys18ThrfsTer?
ENST00000458354.5:c.-3+104_-3+188delinsACACGG (PNCK) ENSP00000401542.1:n.-3+104_-3+188delinsACACGG
ENST00000480693.1:n.64+104_64+188delinsACACGG (PNCK)
NM_001142805.1:c.53_137delinsCCGTGT (SLC6A8) NP_001136277.1:p.Lys18ThrfsTer?
NM_005629.3:c.53_137delinsCCGTGT (SLC6A8) NP_005620.1:p.Lys18ThrfsTer?
NM_005629.4:c.53_137delinsCCGTGT (SLC6A8) MANE Select NP_005620.1:p.Lys18ThrfsTer?
NM_001142805.2:c.53_137delinsCCGTGT (SLC6A8) NP_001136277.1:p.Lys18ThrfsTer?
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