Canonical Allele Identifier: CA2579744085

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688527_153688529del , CM000685.2:g.153688527_153688529del	GRCh38
NC_000023.10:g.152953982_152953984del , CM000685.1:g.152953982_152953984del	GRCh37
NC_000023.9:g.152607176_152607178del	NCBI36
NG_012016.1:g.5231_5233del
NG_012016.2:g.5231_5233del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-48_-46del (SLC6A8) MANE Select	ENSP00000253122.5:n.-48_-46del
ENST00000253122.9:c.-48_-46del (SLC6A8)	ENSP00000253122.5:n.-48_-46del
ENST00000458354.5:c.-3+289_-3+291del (PNCK)	ENSP00000401542.1:n.-3+289_-3+291del
ENST00000480693.1:n.64+289_64+291del (PNCK)
NM_001142805.1:c.-48_-46del (SLC6A8)	NP_001136277.1:n.-48_-46del
NM_005629.3:c.-48_-46del (SLC6A8)	NP_005620.1:n.-48_-46del
NM_005629.4:c.-48_-46del (SLC6A8) MANE Select	NP_005620.1:n.-48_-46del
NM_001142805.2:c.-48_-46del (SLC6A8)	NP_001136277.1:n.-48_-46del