Canonical Allele Identifier: CA2466435803

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688563_153688572delinsCCCGCCGAGG , CM000685.2:g.153688563_153688572delinsCCCGCCGAGG	GRCh38
NC_000023.10:g.152954018_152954027delinsCCCGCCGAGG , CM000685.1:g.152954018_152954027delinsCCCGCCGAGG	GRCh37
NC_000023.9:g.152607212_152607221delinsCCCGCCGAGG	NCBI36
NG_012016.1:g.5267_5276delinsCCCGCCGAGG
NG_012016.2:g.5267_5276delinsCCCGCCGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-12_-3delinsCCCGCCGAGG (SLC6A8) MANE Select	ENSP00000253122.5:n.-12_-3delinsCCCGCCGAGG
ENST00000253122.9:c.-12_-3delinsCCCGCCGAGG (SLC6A8)	ENSP00000253122.5:n.-12_-3delinsCCCGCCGAGG
ENST00000458354.5:c.-3+243_-3+252delinsCCTCGGCGGG (PNCK)	ENSP00000401542.1:n.-3+243_-3+252delinsCCTCGGCGGG
ENST00000480693.1:n.64+243_64+252delinsCCTCGGCGGG (PNCK)
NM_001142805.1:c.-12_-3delinsCCCGCCGAGG (SLC6A8)	NP_001136277.1:n.-12_-3delinsCCCGCCGAGG
NM_005629.3:c.-12_-3delinsCCCGCCGAGG (SLC6A8)	NP_005620.1:n.-12_-3delinsCCCGCCGAGG
NM_005629.4:c.-12_-3delinsCCCGCCGAGG (SLC6A8) MANE Select	NP_005620.1:n.-12_-3delinsCCCGCCGAGG
NM_001142805.2:c.-12_-3delinsCCCGCCGAGG (SLC6A8)	NP_001136277.1:n.-12_-3delinsCCCGCCGAGG