Canonical Allele Identifier: CA915952140
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 807837
ClinVar RCV Id: RCV000996039
dbSNP Id: rs1603212916
gnomAD v4: X-153688623-GAGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688629_153688631del , CM000685.2:g.153688629_153688631del GRCh38
NC_000023.10:g.152954084_152954086del , CM000685.1:g.152954084_152954086del GRCh37
NC_000023.9:g.152607278_152607280del NCBI36
NG_012016.1:g.5333_5335del
NG_012016.2:g.5333_5335del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.55_57del (SLC6A8) MANE Select ENSP00000253122.5:p.Lys19del
ENST00000253122.9:c.55_57del (SLC6A8) ENSP00000253122.5:p.Lys19del
ENST00000458354.5:c.-3+189_-3+191del (PNCK) ENSP00000401542.1:n.-3+189_-3+191del
ENST00000480693.1:n.64+189_64+191del (PNCK)
NM_001142805.1:c.55_57del (SLC6A8) NP_001136277.1:p.Lys19del
NM_005629.3:c.55_57del (SLC6A8) NP_005620.1:p.Lys19del
NM_005629.4:c.55_57del (SLC6A8) MANE Select NP_005620.1:p.Lys19del
NM_001142805.2:c.55_57del (SLC6A8) NP_001136277.1:p.Lys19del
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Search 100 bp 3'