Canonical Allele Identifier: CA2695036380

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688714-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688716del , CM000685.2:g.153688716del	GRCh38
NC_000023.10:g.152954171del , CM000685.1:g.152954171del	GRCh37
NC_000023.9:g.152607365del	NCBI36
NG_012016.1:g.5420del
NG_012016.2:g.5420del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.142del (SLC6A8) MANE Select	ENSP00000253122.5:p.Ala48ProfsTer?
ENST00000253122.9:c.142del (SLC6A8)	ENSP00000253122.5:p.Ala48ProfsTer?
ENST00000458354.5:c.-3+100del (PNCK)	ENSP00000401542.1:n.-3+100del
ENST00000480693.1:n.64+100del (PNCK)
NM_001142805.1:c.142del (SLC6A8)	NP_001136277.1:p.Ala48ProfsTer?
NM_005629.3:c.142del (SLC6A8)	NP_005620.1:p.Ala48ProfsTer?
NM_005629.4:c.142del (SLC6A8) MANE Select	NP_005620.1:p.Ala48ProfsTer?
NM_001142805.2:c.142del (SLC6A8)	NP_001136277.1:p.Ala48ProfsTer?