Canonical Allele Identifier: CA2580101669

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 1698569
• ClinVar RCV Id: RCV002271846
• dbSNP Id: rs2148358474

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688675_153688676insGC , CM000685.2:g.153688675_153688676insGC	GRCh38
NC_000023.10:g.152954130_152954131insGC , CM000685.1:g.152954130_152954131insGC	GRCh37
NC_000023.9:g.152607324_152607325insGC	NCBI36
NG_012016.1:g.5379_5380insGC
NG_012016.2:g.5379_5380insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.101_102insGC (SLC6A8) MANE Select	ENSP00000253122.5:p.Asp35ProfsTer?
ENST00000253122.9:c.101_102insGC (SLC6A8)	ENSP00000253122.5:p.Asp35ProfsTer?
ENST00000458354.5:c.-3+139_-3+140insGC (PNCK)	ENSP00000401542.1:n.-3+139_-3+140insGC
ENST00000480693.1:n.64+139_64+140insGC (PNCK)
NM_001142805.1:c.101_102insGC (SLC6A8)	NP_001136277.1:p.Asp35ProfsTer?
NM_005629.3:c.101_102insGC (SLC6A8)	NP_005620.1:p.Asp35ProfsTer?
NM_005629.4:c.101_102insGC (SLC6A8) MANE Select	NP_005620.1:p.Asp35ProfsTer?
NM_001142805.2:c.101_102insGC (SLC6A8)	NP_001136277.1:p.Asp35ProfsTer?