Canonical Allele Identifier: CA2739289625
Gene: SLC6A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690439del , CM000685.2:g.153690439del GRCh38
NC_000023.10:g.152955894del , CM000685.1:g.152955894del GRCh37
NC_000023.9:g.152609088del NCBI36
NG_012016.1:g.7143del
NG_012016.2:g.7143del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.327del MANE Select ENSP00000253122.5:p.Ile110SerfsTer7
ENST00000675713.1:n.81del
ENST00000253122.9:c.327del ENSP00000253122.5:p.Ile110SerfsTer7
ENST00000430077.6:c.-19del ENSP00000403041.2:n.-19del
ENST00000476466.1:n.179del
NM_001142805.1:c.327del NP_001136277.1:p.Ile110SerfsTer7
NM_001142806.1:c.-19del NP_001136278.1:n.-19del
NM_005629.3:c.327del NP_005620.1:p.Ile110SerfsTer7
NM_005629.4:c.327del MANE Select NP_005620.1:p.Ile110SerfsTer7
NM_001142805.2:c.327del NP_001136277.1:p.Ile110SerfsTer7
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