Canonical Allele Identifier: CA2824271568

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688551_153688552del , CM000685.2:g.153688551_153688552del	GRCh38
NC_000023.10:g.152954006_152954007del , CM000685.1:g.152954006_152954007del	GRCh37
NC_000023.9:g.152607200_152607201del	NCBI36
NG_012016.1:g.5255_5256del
NG_012016.2:g.5255_5256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-24_-23del (SLC6A8) MANE Select	ENSP00000253122.5:n.-24_-23del
ENST00000253122.9:c.-24_-23del (SLC6A8)	ENSP00000253122.5:n.-24_-23del
ENST00000458354.5:c.-3+264_-3+265del (PNCK)	ENSP00000401542.1:n.-3+264_-3+265del
ENST00000480693.1:n.64+264_64+265del (PNCK)
NM_001142805.1:c.-24_-23del (SLC6A8)	NP_001136277.1:n.-24_-23del
NM_005629.3:c.-24_-23del (SLC6A8)	NP_005620.1:n.-24_-23del
NM_005629.4:c.-24_-23del (SLC6A8) MANE Select	NP_005620.1:n.-24_-23del
NM_001142805.2:c.-24_-23del (SLC6A8)	NP_001136277.1:n.-24_-23del