Canonical Allele Identifier: CA2573159463

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 1677028
• ClinVar RCV Id: RCV002222886
• dbSNP Id: rs2148358457

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688671_153688672del , CM000685.2:g.153688671_153688672del	GRCh38
NC_000023.10:g.152954126_152954127del , CM000685.1:g.152954126_152954127del	GRCh37
NC_000023.9:g.152607320_152607321del	NCBI36
NG_012016.1:g.5375_5376del
NG_012016.2:g.5375_5376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.97_98del (SLC6A8) MANE Select	ENSP00000253122.5:p.Lys33GlyfsTer?
ENST00000253122.9:c.97_98del (SLC6A8)	ENSP00000253122.5:p.Lys33GlyfsTer?
ENST00000458354.5:c.-3+143_-3+144del (PNCK)	ENSP00000401542.1:n.-3+143_-3+144del
ENST00000480693.1:n.64+143_64+144del (PNCK)
NM_001142805.1:c.97_98del (SLC6A8)	NP_001136277.1:p.Lys33GlyfsTer?
NM_005629.3:c.97_98del (SLC6A8)	NP_005620.1:p.Lys33GlyfsTer?
NM_005629.4:c.97_98del (SLC6A8) MANE Select	NP_005620.1:p.Lys33GlyfsTer?
NM_001142805.2:c.97_98del (SLC6A8)	NP_001136277.1:p.Lys33GlyfsTer?