Canonical Allele Identifier: CA2466435756

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688495_153688511delinsTGCCGCCGGTGCCCCCC , CM000685.2:g.153688495_153688511delinsTGCCGCCGGTGCCCCCC	GRCh38
NC_000023.10:g.152953950_152953966delinsTGCCGCCGGTGCCCCCC , CM000685.1:g.152953950_152953966delinsTGCCGCCGGTGCCCCCC	GRCh37
NC_000023.9:g.152607144_152607160delinsTGCCGCCGGTGCCCCCC	NCBI36
NG_012016.1:g.5199_5215delinsTGCCGCCGGTGCCCCCC
NG_012016.2:g.5199_5215delinsTGCCGCCGGTGCCCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-80_-64delinsTGCCGCCGGTGCCCCCC (SLC6A8) MANE Select	ENSP00000253122.5:n.-80_-64delinsTGCCGCCGGTGCCCCCC
ENST00000253122.9:c.-80_-64delinsTGCCGCCGGTGCCCCCC (SLC6A8)	ENSP00000253122.5:n.-80_-64delinsTGCCGCCGGTGCCCCCC
ENST00000458354.5:c.-3+304_-3+320delinsGGGGGGCACCGGCGGCA (PNCK)	ENSP00000401542.1:n.-3+304_-3+320delinsGGGGGGCACCGGCGGCA
ENST00000480693.1:n.64+304_64+320delinsGGGGGGCACCGGCGGCA (PNCK)
NM_001142805.1:c.-80_-64delinsTGCCGCCGGTGCCCCCC (SLC6A8)	NP_001136277.1:n.-80_-64delinsTGCCGCCGGTGCCCCCC
NM_005629.3:c.-80_-64delinsTGCCGCCGGTGCCCCCC (SLC6A8)	NP_005620.1:n.-80_-64delinsTGCCGCCGGTGCCCCCC
NM_005629.4:c.-80_-64delinsTGCCGCCGGTGCCCCCC (SLC6A8) MANE Select	NP_005620.1:n.-80_-64delinsTGCCGCCGGTGCCCCCC
NM_001142805.2:c.-80_-64delinsTGCCGCCGGTGCCCCCC (SLC6A8)	NP_001136277.1:n.-80_-64delinsTGCCGCCGGTGCCCCCC