Canonical Allele Identifier: CA2695036075

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688544-C-CCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688552_153688556dup , CM000685.2:g.153688552_153688556dup	GRCh38
NC_000023.10:g.152954007_152954011dup , CM000685.1:g.152954007_152954011dup	GRCh37
NC_000023.9:g.152607201_152607205dup	NCBI36
NG_012016.1:g.5256_5260dup
NG_012016.2:g.5256_5260dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-23_-19dup (SLC6A8) MANE Select	ENSP00000253122.5:n.-23_-19dup
ENST00000253122.9:c.-23_-19dup (SLC6A8)	ENSP00000253122.5:n.-23_-19dup
ENST00000458354.5:c.-3+266_-3+270dup (PNCK)	ENSP00000401542.1:n.-3+266_-3+270dup
ENST00000480693.1:n.64+266_64+270dup (PNCK)
NM_001142805.1:c.-23_-19dup (SLC6A8)	NP_001136277.1:n.-23_-19dup
NM_005629.3:c.-23_-19dup (SLC6A8)	NP_005620.1:n.-23_-19dup
NM_005629.4:c.-23_-19dup (SLC6A8) MANE Select	NP_005620.1:n.-23_-19dup
NM_001142805.2:c.-23_-19dup (SLC6A8)	NP_001136277.1:n.-23_-19dup