Canonical Allele Identifier: CA2842842459

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688880_153688881insGG , CM000685.2:g.153688880_153688881insGG	GRCh38
NC_000023.10:g.152954335_152954336insGG , CM000685.1:g.152954335_152954336insGG	GRCh37
NC_000023.9:g.152607529_152607530insGG	NCBI36
NG_012016.1:g.5584_5585insGG
NG_012016.2:g.5584_5585insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+44_262+45insGG (SLC6A8) MANE Select	ENSP00000253122.5:n.262+44_262+45insGG
ENST00000253122.9:c.262+44_262+45insGG (SLC6A8)	ENSP00000253122.5:n.262+44_262+45insGG
ENST00000458354.5:c.-69_-68insCC (PNCK)	ENSP00000401542.1:n.-69_-68insCC
ENST00000476466.1:n.114+44_114+45insGG (SLC6A8)
NM_001142805.1:c.262+44_262+45insGG (SLC6A8)	NP_001136277.1:n.262+44_262+45insGG
NM_005629.3:c.262+44_262+45insGG (SLC6A8)	NP_005620.1:n.262+44_262+45insGG
NM_005629.4:c.262+44_262+45insGG (SLC6A8) MANE Select	NP_005620.1:n.262+44_262+45insGG
NM_001142805.2:c.262+44_262+45insGG (SLC6A8)	NP_001136277.1:n.262+44_262+45insGG