Canonical Allele Identifier: CA920449767

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1557043879
• gnomAD v4: X-153688862-T-TCCTCCCCCAGCAGGCCGCCGGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688865_153688888dup , CM000685.2:g.153688865_153688888dup	GRCh38
NC_000023.10:g.152954320_152954343dup , CM000685.1:g.152954320_152954343dup	GRCh37
NC_000023.9:g.152607514_152607537dup	NCBI36
NG_012016.1:g.5569_5592dup
NG_012016.2:g.5569_5592dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+29_262+52dup (SLC6A8) MANE Select	ENSP00000253122.5:n.262+29_262+52dup
ENST00000253122.9:c.262+29_262+52dup (SLC6A8)	ENSP00000253122.5:n.262+29_262+52dup
ENST00000458354.5:c.-74_-51dup (PNCK)	ENSP00000401542.1:n.-74_-51dup
ENST00000476466.1:n.114+29_114+52dup (SLC6A8)
NM_001142805.1:c.262+29_262+52dup (SLC6A8)	NP_001136277.1:n.262+29_262+52dup
NM_005629.3:c.262+29_262+52dup (SLC6A8)	NP_005620.1:n.262+29_262+52dup
NM_005629.4:c.262+29_262+52dup (SLC6A8) MANE Select	NP_005620.1:n.262+29_262+52dup
NM_001142805.2:c.262+29_262+52dup (SLC6A8)	NP_001136277.1:n.262+29_262+52dup