Canonical Allele Identifier: CA2466435839
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688623_153688626delinsGAGA , CM000685.2:g.153688623_153688626delinsGAGA GRCh38
NC_000023.10:g.152954078_152954081delinsGAGA , CM000685.1:g.152954078_152954081delinsGAGA GRCh37
NC_000023.9:g.152607272_152607275delinsGAGA NCBI36
NG_012016.1:g.5327_5330delinsGAGA
NG_012016.2:g.5327_5330delinsGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.49_52delinsGAGA (SLC6A8) MANE Select ENSP00000253122.5:p.Glu17=
ENST00000253122.9:c.49_52delinsGAGA (SLC6A8) ENSP00000253122.5:p.Glu17=
ENST00000458354.5:c.-3+189_-3+192delinsTCTC (PNCK) ENSP00000401542.1:n.-3+189_-3+192delinsTCTC
ENST00000480693.1:n.64+189_64+192delinsTCTC (PNCK)
NM_001142805.1:c.49_52delinsGAGA (SLC6A8) NP_001136277.1:p.Glu17=
NM_005629.3:c.49_52delinsGAGA (SLC6A8) NP_005620.1:p.Glu17=
NM_005629.4:c.49_52delinsGAGA (SLC6A8) MANE Select NP_005620.1:p.Glu17=
NM_001142805.2:c.49_52delinsGAGA (SLC6A8) NP_001136277.1:p.Glu17=
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