Canonical Allele Identifier: CA2824271580

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688883_153688909del , CM000685.2:g.153688883_153688909del	GRCh38
NC_000023.10:g.152954338_152954364del , CM000685.1:g.152954338_152954364del	GRCh37
NC_000023.9:g.152607532_152607558del	NCBI36
NG_012016.1:g.5587_5613del
NG_012016.2:g.5587_5613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+47_262+73del (SLC6A8) MANE Select	ENSP00000253122.5:n.262+47_262+73del
ENST00000253122.9:c.262+47_262+73del (SLC6A8)	ENSP00000253122.5:n.262+47_262+73del
ENST00000458354.5:c.-90_-64del (PNCK)	ENSP00000401542.1:n.-90_-64del
ENST00000476466.1:n.114+47_114+73del (SLC6A8)
NM_001142805.1:c.262+47_262+73del (SLC6A8)	NP_001136277.1:n.262+47_262+73del
NM_005629.3:c.262+47_262+73del (SLC6A8)	NP_005620.1:n.262+47_262+73del
NM_005629.4:c.262+47_262+73del (SLC6A8) MANE Select	NP_005620.1:n.262+47_262+73del
NM_001142805.2:c.262+47_262+73del (SLC6A8)	NP_001136277.1:n.262+47_262+73del