Canonical Allele Identifier: CA2824271559

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688436_153688531del , CM000685.2:g.153688436_153688531del	GRCh38
NC_000023.10:g.152953891_152953986del , CM000685.1:g.152953891_152953986del	GRCh37
NC_000023.9:g.152607085_152607180del	NCBI36
NG_012016.1:g.5140_5235del
NG_012016.2:g.5140_5235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-139_-44del (SLC6A8) MANE Select	ENSP00000253122.5:n.-139_-44del
ENST00000253122.9:c.-139_-44del (SLC6A8)	ENSP00000253122.5:n.-139_-44del
ENST00000458354.5:c.-3+290_-3+385del (PNCK)	ENSP00000401542.1:n.-3+290_-3+385del
ENST00000480693.1:n.64+290_64+385del (PNCK)
NM_001142805.1:c.-139_-44del (SLC6A8)	NP_001136277.1:n.-139_-44del
NM_005629.3:c.-139_-44del (SLC6A8)	NP_005620.1:n.-139_-44del
NM_005629.4:c.-139_-44del (SLC6A8) MANE Select	NP_005620.1:n.-139_-44del
NM_001142805.2:c.-139_-44del (SLC6A8)	NP_001136277.1:n.-139_-44del