Canonical Allele Identifier: CA1138540544

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2091438214
• gnomAD v3: X-153688856-G-GCGGCCTCCTCCCCCAGCAGGCCGC
• gnomAD v4: X-153688856-G-GCGGCCTCCTCCCCCAGCAGGCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688862_153688885dup , CM000685.2:g.153688862_153688885dup	GRCh38
NC_000023.10:g.152954317_152954340dup , CM000685.1:g.152954317_152954340dup	GRCh37
NC_000023.9:g.152607511_152607534dup	NCBI36
NG_012016.1:g.5566_5589dup
NG_012016.2:g.5566_5589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+26_262+49dup (SLC6A8) MANE Select	ENSP00000253122.5:n.262+26_262+49dup
ENST00000253122.9:c.262+26_262+49dup (SLC6A8)	ENSP00000253122.5:n.262+26_262+49dup
ENST00000458354.5:c.-68_-45dup (PNCK)	ENSP00000401542.1:n.-68_-45dup
ENST00000476466.1:n.114+26_114+49dup (SLC6A8)
NM_001142805.1:c.262+26_262+49dup (SLC6A8)	NP_001136277.1:n.262+26_262+49dup
NM_005629.3:c.262+26_262+49dup (SLC6A8)	NP_005620.1:n.262+26_262+49dup
NM_005629.4:c.262+26_262+49dup (SLC6A8) MANE Select	NP_005620.1:n.262+26_262+49dup
NM_001142805.2:c.262+26_262+49dup (SLC6A8)	NP_001136277.1:n.262+26_262+49dup