Canonical Allele Identifier: CA873270584

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1191614829
• MyVariant Identifiers: chrX:g.153688452_153688469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688455_153688472del , CM000685.2:g.153688455_153688472del	GRCh38
NC_000023.10:g.152953910_152953927del , CM000685.1:g.152953910_152953927del	GRCh37
NC_000023.9:g.152607104_152607121del	NCBI36
NG_012016.1:g.5159_5176del
NG_012016.2:g.5159_5176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-120_-103del (SLC6A8) MANE Select	ENSP00000253122.5:n.-120_-103del
ENST00000253122.9:c.-120_-103del (SLC6A8)	ENSP00000253122.5:n.-120_-103del
ENST00000458354.5:c.-3+346_-3+363del (PNCK)	ENSP00000401542.1:n.-3+346_-3+363del
ENST00000480693.1:n.64+346_64+363del (PNCK)
NM_001142805.1:c.-120_-103del (SLC6A8)	NP_001136277.1:n.-120_-103del
NM_005629.3:c.-120_-103del (SLC6A8)	NP_005620.1:n.-120_-103del
NM_005629.4:c.-120_-103del (SLC6A8) MANE Select	NP_005620.1:n.-120_-103del
NM_001142805.2:c.-120_-103del (SLC6A8)	NP_001136277.1:n.-120_-103del