Canonical Allele Identifier: CA10638045
Gene: SLC6A2 HGNC NCBI
gnomAD v2:
16:55737175 TCAC / T
gnomAD v3:
16:55703263 TCAC / T
gnomAD v4:
chr16-55703263-TCAC-T
Joint Max Group AF 0.00674162 (SAS)
Genomes Max Group AF 0.00518008 (SAS)
Exomes Max Group AF 0.00679411 (SAS)
ClinVar RCV:
RCV000386630
ClinVar Variation:
319834
dbSNP:
540636734
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.55703265_55703267del , CM000678.2:g.55703265_55703267del GRCh38
NC_000016.9:g.55737177_55737179del , CM000678.1:g.55737177_55737179del GRCh37
NC_000016.8:g.54294678_54294680del NCBI36
NG_016969.1:g.52636_52638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219833.13:c.1830+1331_1830+1333del ENSP00000219833.8:n.1830+1331_1830+1333del
ENST00000568943.6:c.*919_*921del MANE Select ENSP00000457473.1:n.*919_*921del
ENST00000574918.2:c.*919_*921del ENSP00000460214.2:n.*919_*921del
ENST00000682050.1:c.*1472_*1474del ENSP00000508367.1:n.*1472_*1474del
ENST00000219833.12:c.1830+1331_1830+1333del ENSP00000219833.8:n.1830+1331_1830+1333del
ENST00000379906.6:c.*919_*921del ENSP00000369237.2:n.*919_*921del
ENST00000414754.7:c.*919_*921del ENSP00000394956.3:n.*919_*921del
ENST00000561820.5:c.1759-1951_1759-1949del ENSP00000454439.1:n.1759-1951_1759-1949del
ENST00000567238.1:c.*919_*921del ENSP00000457375.1:n.*919_*921del
ENST00000574918.1:c.105+1331_105+1333del
NM_001043.3:c.*919_*921del NP_001034.1:n.*919_*921del
NM_001172501.1:c.*919_*921del NP_001165972.1:n.*919_*921del
NM_001172502.1:c.*919_*921del NP_001165973.1:n.*919_*921del
NM_001172504.1:c.1830+1331_1830+1333del NP_001165975.1:n.1830+1331_1830+1333del
XM_006721263.2:c.1830+1331_1830+1333del XP_006721326.1:n.1830+1331_1830+1333del
XM_011523295.1:c.1830+1331_1830+1333del XP_011521597.1:n.1830+1331_1830+1333del
XM_011523296.1:c.1695+1331_1695+1333del XP_011521598.1:n.1695+1331_1695+1333del
XM_011523297.1:c.*919_*921del XP_011521599.1:n.*919_*921del
XM_011523299.1:c.*919_*921del XP_011521601.1:n.*919_*921del
XM_011523300.1:c.*919_*921del XP_011521602.1:n.*919_*921del
XM_011523295.2:c.1830+1331_1830+1333del XP_011521597.1:n.1830+1331_1830+1333del
XM_011523296.2:c.1695+1331_1695+1333del XP_011521598.1:n.1695+1331_1695+1333del
XM_011523297.3:c.*919_*921del XP_011521599.1:n.*919_*921del
XM_011523299.2:c.*919_*921del XP_011521601.1:n.*919_*921del
XM_011523300.2:c.*919_*921del XP_011521602.1:n.*919_*921del
XR_933403.3:n.2965_2967del
NM_001172501.2:c.*919_*921del NP_001165972.1:n.*919_*921del
NM_001172501.3:c.*919_*921del MANE Select NP_001165972.1:n.*919_*921del
Search 100 bp 5'
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