Canonical Allele Identifier: CA873270617

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1374260374
• gnomAD v3: X-153688543-AC-A
• gnomAD v4: X-153688543-AC-A
• MyVariant Identifiers: chrX:g.153688544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688547del , CM000685.2:g.153688547del	GRCh38
NC_000023.10:g.152954002del , CM000685.1:g.152954002del	GRCh37
NC_000023.9:g.152607196del	NCBI36
NG_012016.1:g.5251del
NG_012016.2:g.5251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-28del (SLC6A8) MANE Select	ENSP00000253122.5:n.-28del
ENST00000253122.9:c.-28del (SLC6A8)	ENSP00000253122.5:n.-28del
ENST00000458354.5:c.-3+271del (PNCK)	ENSP00000401542.1:n.-3+271del
ENST00000480693.1:n.64+271del (PNCK)
NM_001142805.1:c.-28del (SLC6A8)	NP_001136277.1:n.-28del
NM_005629.3:c.-28del (SLC6A8)	NP_005620.1:n.-28del
NM_005629.4:c.-28del (SLC6A8) MANE Select	NP_005620.1:n.-28del
NM_001142805.2:c.-28del (SLC6A8)	NP_001136277.1:n.-28del