Canonical Allele Identifier: CA16616640
Gene: SLC6A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693324_153693325del , CM000685.2:g.153693324_153693325del GRCh38
NC_000023.10:g.152958779_152958780del , CM000685.1:g.152958779_152958780del GRCh37
NC_000023.9:g.152611973_152611974del NCBI36
NG_012016.1:g.10028_10029del
NG_012016.2:g.10028_10029del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.974_975del MANE Select ENSP00000253122.5:p.Thr325SerfsTer?
ENST00000253122.9:c.974_975del ENSP00000253122.5:p.Thr325SerfsTer?
ENST00000413787.1:c.123-3_123-2del ENSP00000400463.1:n.123-3_123-2del
ENST00000430077.6:c.629_630del ENSP00000403041.2:p.Thr210SerfsTer?
ENST00000442457.1:c.58_59del
ENST00000467402.1:n.146-168_146-167del
ENST00000485324.1:n.1007_1008del
NM_001142805.1:c.974_975del NP_001136277.1:p.Thr325SerfsTer?
NM_001142806.1:c.629_630del NP_001136278.1:p.Thr210SerfsTer?
NM_005629.3:c.974_975del NP_005620.1:p.Thr325SerfsTer?
NM_005629.4:c.974_975del MANE Select NP_005620.1:p.Thr325SerfsTer?
NM_001142805.2:c.974_975del NP_001136277.1:p.Thr325SerfsTer?
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