Canonical Allele Identifier: CA2512510602

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688555_153688570del , CM000685.2:g.153688555_153688570del	GRCh38
NC_000023.10:g.152954010_152954025del , CM000685.1:g.152954010_152954025del	GRCh37
NC_000023.9:g.152607204_152607219del	NCBI36
NG_012016.1:g.5259_5274del
NG_012016.2:g.5259_5274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-20_-5del (SLC6A8) MANE Select	ENSP00000253122.5:n.-20_-5del
ENST00000253122.9:c.-20_-5del (SLC6A8)	ENSP00000253122.5:n.-20_-5del
ENST00000458354.5:c.-3+245_-3+260del (PNCK)	ENSP00000401542.1:n.-3+245_-3+260del
ENST00000480693.1:n.64+245_64+260del (PNCK)
NM_001142805.1:c.-20_-5del (SLC6A8)	NP_001136277.1:n.-20_-5del
NM_005629.3:c.-20_-5del (SLC6A8)	NP_005620.1:n.-20_-5del
NM_005629.4:c.-20_-5del (SLC6A8) MANE Select	NP_005620.1:n.-20_-5del
NM_001142805.2:c.-20_-5del (SLC6A8)	NP_001136277.1:n.-20_-5del