Canonical Allele Identifier: CA2466435918

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688843_153688866delinsTCCCCCGCCCGCCGCGGCCTCCTC , CM000685.2:g.153688843_153688866delinsTCCCCCGCCCGCCGCGGCCTCCTC	GRCh38
NC_000023.10:g.152954298_152954321delinsTCCCCCGCCCGCCGCGGCCTCCTC , CM000685.1:g.152954298_152954321delinsTCCCCCGCCCGCCGCGGCCTCCTC	GRCh37
NC_000023.9:g.152607492_152607515delinsTCCCCCGCCCGCCGCGGCCTCCTC	NCBI36
NG_012016.1:g.5547_5570delinsTCCCCCGCCCGCCGCGGCCTCCTC
NG_012016.2:g.5547_5570delinsTCCCCCGCCCGCCGCGGCCTCCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.262+7_262+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8) MANE Select	ENSP00000253122.5:n.262+7_262+30delinsTCC...
ENST00000253122.9:c.262+7_262+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8)	ENSP00000253122.5:n.262+7_262+30delinsTCC...
ENST00000458354.5:c.-54_-31delinsGAGGAGGCCGCGGCGGGCGGGGGA (PNCK)	ENSP00000401542.1:n.-54_-31delinsGAGGAGGC...
ENST00000476466.1:n.114+7_114+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8)
ENST00000480693.1:n.13_36delinsGAGGAGGCCGCGGCGGGCGGGGGA (PNCK)
NM_001142805.1:c.262+7_262+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8)	NP_001136277.1:n.262+7_262+30delinsTCCCCC...
NM_005629.3:c.262+7_262+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8)	NP_005620.1:n.262+7_262+30delinsTCCCCCGCC...
NM_005629.4:c.262+7_262+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8) MANE Select	NP_005620.1:n.262+7_262+30delinsTCCCCCGCC...
NM_001142805.2:c.262+7_262+30delinsTCCCCCGCCCGCCGCGGCCTCCTC (SLC6A8)	NP_001136277.1:n.262+7_262+30delinsTCCCCC...