Canonical Allele Identifier: CA2466435958

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688888_153688889delinsCG , CM000685.2:g.153688888_153688889delinsCG	GRCh38
NC_000023.10:g.152954343_152954344delinsCG , CM000685.1:g.152954343_152954344delinsCG	GRCh37
NC_000023.9:g.152607537_152607538delinsCG	NCBI36
NG_012016.1:g.5592_5593delinsCG
NG_012016.2:g.5592_5593delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+52_262+53delinsCG (SLC6A8) MANE Select	ENSP00000253122.5:n.262+52_262+53delinsCG
ENST00000253122.9:c.262+52_262+53delinsCG (SLC6A8)	ENSP00000253122.5:n.262+52_262+53delinsCG
ENST00000458354.5:c.-77_-76delinsCG (PNCK)	ENSP00000401542.1:n.-77_-76delinsCG
ENST00000476466.1:n.114+52_114+53delinsCG (SLC6A8)
NM_001142805.1:c.262+52_262+53delinsCG (SLC6A8)	NP_001136277.1:n.262+52_262+53delinsCG
NM_005629.3:c.262+52_262+53delinsCG (SLC6A8)	NP_005620.1:n.262+52_262+53delinsCG
NM_005629.4:c.262+52_262+53delinsCG (SLC6A8) MANE Select	NP_005620.1:n.262+52_262+53delinsCG
NM_001142805.2:c.262+52_262+53delinsCG (SLC6A8)	NP_001136277.1:n.262+52_262+53delinsCG