Canonical Allele Identifier: CA2739241916

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2148358658

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688845_153688846insTTATTCCCTACGTCCTGAT , CM000685.2:g.153688845_153688846insTTATTCCCTACGTCCTGAT	GRCh38
NC_000023.10:g.152954300_152954301insTTATTCCCTACGTCCTGAT , CM000685.1:g.152954300_152954301insTTATTCCCTACGTCCTGAT	GRCh37
NC_000023.9:g.152607494_152607495insTTATTCCCTACGTCCTGAT	NCBI36
NG_012016.1:g.5549_5550insTTATTCCCTACGTCCTGAT
NG_012016.2:g.5549_5550insTTATTCCCTACGTCCTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+9_262+10insTTATTCCCTACGTCCTGAT (SLC6A8) MANE Select	ENSP00000253122.5:n.262+9_262+10insTTATTCCCTACGTCCTGAT
ENST00000253122.9:c.262+9_262+10insTTATTCCCTACGTCCTGAT (SLC6A8)	ENSP00000253122.5:n.262+9_262+10insTTATTCCCTACGTCCTGAT
ENST00000458354.5:c.-34_-33insATCAGGACGTAGGGAATAA (PNCK)	ENSP00000401542.1:n.-34_-33insATCAGGACGTAGGGAATAA
ENST00000476466.1:n.114+9_114+10insTTATTCCCTACGTCCTGAT (SLC6A8)
ENST00000480693.1:n.33_34insATCAGGACGTAGGGAATAA (PNCK)
NM_001142805.1:c.262+9_262+10insTTATTCCCTACGTCCTGAT (SLC6A8)	NP_001136277.1:n.262+9_262+10insTTATTCCCTACGTCCTGAT
NM_005629.3:c.262+9_262+10insTTATTCCCTACGTCCTGAT (SLC6A8)	NP_005620.1:n.262+9_262+10insTTATTCCCTACGTCCTGAT
NM_005629.4:c.262+9_262+10insTTATTCCCTACGTCCTGAT (SLC6A8) MANE Select	NP_005620.1:n.262+9_262+10insTTATTCCCTACGTCCTGAT
NM_001142805.2:c.262+9_262+10insTTATTCCCTACGTCCTGAT (SLC6A8)	NP_001136277.1:n.262+9_262+10insTTATTCCCTACGTCCTGAT