Canonical Allele Identifier: CA2579985999
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583102
ClinVar RCV Id: RCV003334345
ERepo: CA2579985999/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693998_153694011del , CM000685.2:g.153693998_153694011del GRCh38
NC_000023.10:g.152959453_152959466del , CM000685.1:g.152959453_152959466del GRCh37
NC_000023.9:g.152612647_152612660del NCBI36
NG_012016.1:g.10702_10715del
NG_012016.2:g.10702_10715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1235_1248del MANE Select ENSP00000253122.5:p.Leu412GlnfsTer?
ENST00000253122.9:c.1235_1248del ENSP00000253122.5:p.Leu412GlnfsTer?
ENST00000413787.1:c.258-206_258-193del ENSP00000400463.1:n.258-206_258-193del
ENST00000430077.6:c.890_903del ENSP00000403041.2:p.Leu297GlnfsTer?
ENST00000442457.1:c.289_302del
ENST00000457723.1:c.219_232del ENSP00000394742.1:p.Trp75ArgfsTer?
ENST00000485324.1:n.1268_1281del
NM_001142805.1:c.1205_1218del NP_001136277.1:p.Leu402GlnfsTer?
NM_001142806.1:c.890_903del NP_001136278.1:p.Leu297GlnfsTer?
NM_005629.3:c.1235_1248del NP_005620.1:p.Leu412GlnfsTer?
NM_005629.4:c.1235_1248del MANE Select NP_005620.1:p.Leu412GlnfsTer?
NM_001142805.2:c.1205_1218del NP_001136277.1:p.Leu402GlnfsTer?
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