Canonical Allele Identifier: CA2695036248

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688584-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688587_153688588dup , CM000685.2:g.153688587_153688588dup	GRCh38
NC_000023.10:g.152954042_152954043dup , CM000685.1:g.152954042_152954043dup	GRCh37
NC_000023.9:g.152607236_152607237dup	NCBI36
NG_012016.1:g.5291_5292dup
NG_012016.2:g.5291_5292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.13_14dup (SLC6A8) MANE Select	ENSP00000253122.5:p.Ser5ArgfsTer?
ENST00000253122.9:c.13_14dup (SLC6A8)	ENSP00000253122.5:p.Ser5ArgfsTer?
ENST00000458354.5:c.-3+229_-3+230dup (PNCK)	ENSP00000401542.1:n.-3+229_-3+230dup
ENST00000480693.1:n.64+229_64+230dup (PNCK)
NM_001142805.1:c.13_14dup (SLC6A8)	NP_001136277.1:p.Ser5ArgfsTer?
NM_005629.3:c.13_14dup (SLC6A8)	NP_005620.1:p.Ser5ArgfsTer?
NM_005629.4:c.13_14dup (SLC6A8) MANE Select	NP_005620.1:p.Ser5ArgfsTer?
NM_001142805.2:c.13_14dup (SLC6A8)	NP_001136277.1:p.Ser5ArgfsTer?