Canonical Allele Identifier: CA2466435854
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688662_153688663delinsGC , CM000685.2:g.153688662_153688663delinsGC GRCh38
NC_000023.10:g.152954117_152954118delinsGC , CM000685.1:g.152954117_152954118delinsGC GRCh37
NC_000023.9:g.152607311_152607312delinsGC NCBI36
NG_012016.1:g.5366_5367delinsGC
NG_012016.2:g.5366_5367delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.88_89delinsGC (SLC6A8) MANE Select ENSP00000253122.5:p.Ala30=
ENST00000253122.9:c.88_89delinsGC (SLC6A8) ENSP00000253122.5:p.Ala30=
ENST00000458354.5:c.-3+152_-3+153delinsGC (PNCK) ENSP00000401542.1:n.-3+152_-3+153delinsGC
ENST00000480693.1:n.64+152_64+153delinsGC (PNCK)
NM_001142805.1:c.88_89delinsGC (SLC6A8) NP_001136277.1:p.Ala30=
NM_005629.3:c.88_89delinsGC (SLC6A8) NP_005620.1:p.Ala30=
NM_005629.4:c.88_89delinsGC (SLC6A8) MANE Select NP_005620.1:p.Ala30=
NM_001142805.2:c.88_89delinsGC (SLC6A8) NP_001136277.1:p.Ala30=
Search 100 bp 5'
Search 100 bp 3'