Canonical Allele Identifier: CA645287844
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 516246
ClinVar RCV Id: RCV000599828
dbSNP Id: rs1557043702
gnomAD v2: X-152954024-GA-G
gnomAD v4: X-153688569-GA-G
MyVariant Identifiers: chrX:g.152954025del (hg19) chrX:g.153688570del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688570del , CM000685.2:g.153688570del GRCh38
NC_000023.10:g.152954025del , CM000685.1:g.152954025del GRCh37
NC_000023.9:g.152607219del NCBI36
NG_012016.1:g.5274del
NG_012016.2:g.5274del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-5del (SLC6A8) MANE Select ENSP00000253122.5:n.-5del
ENST00000253122.9:c.-5del (SLC6A8) ENSP00000253122.5:n.-5del
ENST00000458354.5:c.-3+245del (PNCK) ENSP00000401542.1:n.-3+245del
ENST00000480693.1:n.64+245del (PNCK)
NM_001142805.1:c.-5del (SLC6A8) NP_001136277.1:n.-5del
NM_005629.3:c.-5del (SLC6A8) NP_005620.1:n.-5del
NM_005629.4:c.-5del (SLC6A8) MANE Select NP_005620.1:n.-5del
NM_001142805.2:c.-5del (SLC6A8) NP_001136277.1:n.-5del
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