Canonical Allele Identifier: CA2466435742

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2091434618

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688473_153688476dup , CM000685.2:g.153688473_153688476dup	GRCh38
NC_000023.10:g.152953928_152953931dup , CM000685.1:g.152953928_152953931dup	GRCh37
NC_000023.9:g.152607122_152607125dup	NCBI36
NG_012016.1:g.5177_5180dup
NG_012016.2:g.5177_5180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-102_-99dup (SLC6A8) MANE Select	ENSP00000253122.5:n.-102_-99dup
ENST00000253122.9:c.-102_-99dup (SLC6A8)	ENSP00000253122.5:n.-102_-99dup
ENST00000458354.5:c.-3+340_-3+343dup (PNCK)	ENSP00000401542.1:n.-3+340_-3+343dup
ENST00000480693.1:n.64+340_64+343dup (PNCK)
NM_001142805.1:c.-102_-99dup (SLC6A8)	NP_001136277.1:n.-102_-99dup
NM_005629.3:c.-102_-99dup (SLC6A8)	NP_005620.1:n.-102_-99dup
NM_005629.4:c.-102_-99dup (SLC6A8) MANE Select	NP_005620.1:n.-102_-99dup
NM_001142805.2:c.-102_-99dup (SLC6A8)	NP_001136277.1:n.-102_-99dup