Canonical Allele Identifier: CA2518537049

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688551_153688560del , CM000685.2:g.153688551_153688560del	GRCh38
NC_000023.10:g.152954006_152954015del , CM000685.1:g.152954006_152954015del	GRCh37
NC_000023.9:g.152607200_152607209del	NCBI36
NG_012016.1:g.5255_5264del
NG_012016.2:g.5255_5264del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-24_-15del (SLC6A8) MANE Select	ENSP00000253122.5:n.-24_-15del
ENST00000253122.9:c.-24_-15del (SLC6A8)	ENSP00000253122.5:n.-24_-15del
ENST00000458354.5:c.-3+257_-3+266del (PNCK)	ENSP00000401542.1:n.-3+257_-3+266del
ENST00000480693.1:n.64+257_64+266del (PNCK)
NM_001142805.1:c.-24_-15del (SLC6A8)	NP_001136277.1:n.-24_-15del
NM_005629.3:c.-24_-15del (SLC6A8)	NP_005620.1:n.-24_-15del
NM_005629.4:c.-24_-15del (SLC6A8) MANE Select	NP_005620.1:n.-24_-15del
NM_001142805.2:c.-24_-15del (SLC6A8)	NP_001136277.1:n.-24_-15del