Canonical Allele Identifier: CA10603708
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694373_153694385delinsTTGACTACTACTACAG , CM000685.2:g.153694373_153694385delinsTTGACTACTACTACAG GRCh38
NC_000023.10:g.152959828_152959840delinsTTGACTACTACTACAG , CM000685.1:g.152959828_152959840delinsTTGACTACTACTACAG GRCh37
NC_000023.9:g.152613022_152613034delinsTTGACTACTACTACAG NCBI36
NG_012016.1:g.11077_11089delinsTTGACTACTACTACAG
NG_012016.2:g.11077_11089delinsTTGACTACTACTACAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1422_1434delinsTTGACTACTACTACAG MANE Select ENSP00000253122.5:p.Asp475Ter
ENST00000253122.9:c.1422_1434delinsTTGACTACTACTACAG ENSP00000253122.5:p.Asp475Ter
ENST00000413787.1:c.351_363delinsTTGACTACTACTACAG ENSP00000400463.1:p.Asp118Ter
ENST00000430077.6:c.1077_1089delinsTTGACTACTACTACAG ENSP00000403041.2:p.Asp360Ter
ENST00000442457.1:c.476_488delinsTTGACTACTACTACAG
ENST00000485324.1:n.1643_1655delinsTTGACTACTACTACAG
NM_001142805.1:c.1392_1404delinsTTGACTACTACTACAG NP_001136277.1:p.Asp465Ter
NM_001142806.1:c.1077_1089delinsTTGACTACTACTACAG NP_001136278.1:p.Asp360Ter
NM_005629.3:c.1422_1434delinsTTGACTACTACTACAG NP_005620.1:p.Asp475Ter
NM_005629.4:c.1422_1434delinsTTGACTACTACTACAG MANE Select NP_005620.1:p.Asp475Ter
NM_001142805.2:c.1392_1404delinsTTGACTACTACTACAG NP_001136277.1:p.Asp465Ter