Canonical Allele Identifier: CA2695036262

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688590-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688592del , CM000685.2:g.153688592del	GRCh38
NC_000023.10:g.152954047del , CM000685.1:g.152954047del	GRCh37
NC_000023.9:g.152607241del	NCBI36
NG_012016.1:g.5296del
NG_012016.2:g.5296del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.18del (SLC6A8) MANE Select	ENSP00000253122.5:p.Glu7ArgfsTer?
ENST00000253122.9:c.18del (SLC6A8)	ENSP00000253122.5:p.Glu7ArgfsTer?
ENST00000458354.5:c.-3+224del (PNCK)	ENSP00000401542.1:n.-3+224del
ENST00000480693.1:n.64+224del (PNCK)
NM_001142805.1:c.18del (SLC6A8)	NP_001136277.1:p.Glu7ArgfsTer?
NM_005629.3:c.18del (SLC6A8)	NP_005620.1:p.Glu7ArgfsTer?
NM_005629.4:c.18del (SLC6A8) MANE Select	NP_005620.1:p.Glu7ArgfsTer?
NM_001142805.2:c.18del (SLC6A8)	NP_001136277.1:p.Glu7ArgfsTer?