Canonical Allele Identifier: CA645287842

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1454951551
• gnomAD v2: X-152954018-CCCGCCGAGG-C
• gnomAD v4: X-153688563-CCCGCCGAGG-C
• MyVariant Identifiers: chrX:g.152954019_152954027del (hg19) ; chrX:g.153688564_153688572del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688566_153688574del , CM000685.2:g.153688566_153688574del	GRCh38
NC_000023.10:g.152954021_152954029del , CM000685.1:g.152954021_152954029del	GRCh37
NC_000023.9:g.152607215_152607223del	NCBI36
NG_012016.1:g.5270_5278del
NG_012016.2:g.5270_5278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-9_-1del (SLC6A8) MANE Select	ENSP00000253122.5:n.-9_-1del
ENST00000253122.9:c.-9_-1del (SLC6A8)	ENSP00000253122.5:n.-9_-1del
ENST00000458354.5:c.-3+243_-3+251del (PNCK)	ENSP00000401542.1:n.-3+243_-3+251del
ENST00000480693.1:n.64+243_64+251del (PNCK)
NM_001142805.1:c.-9_-1del (SLC6A8)	NP_001136277.1:n.-9_-1del
NM_005629.3:c.-9_-1del (SLC6A8)	NP_005620.1:n.-9_-1del
NM_005629.4:c.-9_-1del (SLC6A8) MANE Select	NP_005620.1:n.-9_-1del
NM_001142805.2:c.-9_-1del (SLC6A8)	NP_001136277.1:n.-9_-1del