Canonical Allele Identifier: CA2695037186

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688843-TCCCCCGCCCGCCGCGGCCTCCTCCCCCAGCAGGCCGCCGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688854_153688893del , CM000685.2:g.153688854_153688893del	GRCh38
NC_000023.10:g.152954309_152954348del , CM000685.1:g.152954309_152954348del	GRCh37
NC_000023.9:g.152607503_152607542del	NCBI36
NG_012016.1:g.5558_5597del
NG_012016.2:g.5558_5597del

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.262+18_262+57del (SLC6A8) MANE Select	ENSP00000253122.5:n.262+18_262+57del
ENST00000253122.9:c.262+18_262+57del (SLC6A8)	ENSP00000253122.5:n.262+18_262+57del
ENST00000458354.5:c.-71_-32del (PNCK)	ENSP00000401542.1:n.-71_-32del
ENST00000476466.1:n.114+18_114+57del (SLC6A8)
NM_001142805.1:c.262+18_262+57del (SLC6A8)	NP_001136277.1:n.262+18_262+57del
NM_005629.3:c.262+18_262+57del (SLC6A8)	NP_005620.1:n.262+18_262+57del
NM_005629.4:c.262+18_262+57del (SLC6A8) MANE Select	NP_005620.1:n.262+18_262+57del
NM_001142805.2:c.262+18_262+57del (SLC6A8)	NP_001136277.1:n.262+18_262+57del