Canonical Allele Identifier: CA645287847
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 3066430
ClinVar RCV Id: RCV003991434
dbSNP Id: rs1557043789
gnomAD v2: X-152954117-GC-G
gnomAD v4: X-153688662-GC-G
MyVariant Identifiers: chrX:g.152954118del (hg19)
ERepo: CA645287847/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688666del , CM000685.2:g.153688666del GRCh38
NC_000023.10:g.152954121del , CM000685.1:g.152954121del GRCh37
NC_000023.9:g.152607315del NCBI36
NG_012016.1:g.5370del
NG_012016.2:g.5370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.92del (SLC6A8) MANE Select ENSP00000253122.5:p.Pro31ArgfsTer?
ENST00000253122.9:c.92del (SLC6A8) ENSP00000253122.5:p.Pro31ArgfsTer?
ENST00000458354.5:c.-3+152del (PNCK) ENSP00000401542.1:n.-3+152del
ENST00000480693.1:n.64+152del (PNCK)
NM_001142805.1:c.92del (SLC6A8) NP_001136277.1:p.Pro31ArgfsTer?
NM_005629.3:c.92del (SLC6A8) NP_005620.1:p.Pro31ArgfsTer?
NM_005629.4:c.92del (SLC6A8) MANE Select NP_005620.1:p.Pro31ArgfsTer?
NM_001142805.2:c.92del (SLC6A8) NP_001136277.1:p.Pro31ArgfsTer?
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