Canonical Allele Identifier: CA2501377512

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688621del , CM000685.2:g.153688621del	GRCh38
NC_000023.10:g.152954076del , CM000685.1:g.152954076del	GRCh37
NC_000023.9:g.152607270del	NCBI36
NG_012016.1:g.5325del
NG_012016.2:g.5325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.47del (SLC6A8) MANE Select	ENSP00000253122.5:p.Asp16AlafsTer?
ENST00000253122.9:c.47del (SLC6A8)	ENSP00000253122.5:p.Asp16AlafsTer?
ENST00000458354.5:c.-3+194del (PNCK)	ENSP00000401542.1:n.-3+194del
ENST00000480693.1:n.64+194del (PNCK)
NM_001142805.1:c.47del (SLC6A8)	NP_001136277.1:p.Asp16AlafsTer?
NM_005629.3:c.47del (SLC6A8)	NP_005620.1:p.Asp16AlafsTer?
NM_005629.4:c.47del (SLC6A8) MANE Select	NP_005620.1:p.Asp16AlafsTer?
NM_001142805.2:c.47del (SLC6A8)	NP_001136277.1:p.Asp16AlafsTer?