Canonical Allele Identifier: CA2579744101

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688865-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688870del , CM000685.2:g.153688870del	GRCh38
NC_000023.10:g.152954325del , CM000685.1:g.152954325del	GRCh37
NC_000023.9:g.152607519del	NCBI36
NG_012016.1:g.5574del
NG_012016.2:g.5574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+34del (SLC6A8) MANE Select	ENSP00000253122.5:n.262+34del
ENST00000253122.9:c.262+34del (SLC6A8)	ENSP00000253122.5:n.262+34del
ENST00000458354.5:c.-54del (PNCK)	ENSP00000401542.1:n.-54del
ENST00000476466.1:n.114+34del (SLC6A8)
ENST00000480693.1:n.13del (PNCK)
NM_001142805.1:c.262+34del (SLC6A8)	NP_001136277.1:n.262+34del
NM_005629.3:c.262+34del (SLC6A8)	NP_005620.1:n.262+34del
NM_005629.4:c.262+34del (SLC6A8) MANE Select	NP_005620.1:n.262+34del
NM_001142805.2:c.262+34del (SLC6A8)	NP_001136277.1:n.262+34del