Canonical Allele Identifier: CA16044005
Gene: SLC6A9 HGNC NCBI

Linked Data

ClinVar Variation Id: 374988
ClinVar RCV Id: RCV000415630
dbSNP Id: rs1057519315
MyVariant Identifiers: chr1:g.44468535_44468539del (hg19) chr1:g.44002863_44002867del (hg38)
PubMed: PMID:27773429 PMID:29190063
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44002866_44002870del , CM000663.2:g.44002866_44002870del GRCh38
NC_000001.10:g.44468538_44468542del , CM000663.1:g.44468538_44468542del GRCh37
NC_000001.9:g.44241125_44241129del NCBI36
NG_050929.1:g.33626_33630del

Transcript Alleles

HGVS Amino-acid change
ENST00000372310.8:c.709_713del MANE Select ENSP00000361384.4:p.Lys237PhefsTer?
ENST00000673836.1:c.709_713del ENSP00000501314.1:p.Lys237PhefsTer?
ENST00000357730.6:c.766_770del ENSP00000350362.2:p.Lys256PhefsTer?
ENST00000360584.6:c.928_932del ENSP00000353791.2:p.Lys310PhefsTer?
ENST00000372306.7:c.709_713del ENSP00000361380.3:p.Lys237PhefsTer?
ENST00000372307.7:c.514_518del ENSP00000361381.3:p.Lys172PhefsTer?
ENST00000372310.7:c.709_713del ENSP00000361384.3:p.Lys237PhefsTer?
ENST00000475075.6:c.376_380del ENSP00000434460.1:p.Lys126PhefsTer?
NM_001024845.2:c.709_713del NP_001020016.1:p.Lys237PhefsTer?
NM_001261380.1:c.721_725del NP_001248309.1:p.Lys241PhefsTer?
NM_006934.3:c.766_770del NP_008865.2:p.Lys256PhefsTer?
NM_201649.3:c.928_932del NP_964012.2:p.Lys310PhefsTer?
NR_048548.1:n.973_977del
NR_048549.1:n.692_696del
XM_011542017.1:c.928_932del XP_011540319.1:p.Lys310PhefsTer?
NM_001328626.1:c.376_380del NP_001315555.1:p.Lys126PhefsTer?
NM_001328627.1:c.646_650del NP_001315556.1:p.Lys216PhefsTer?
NM_001328628.1:c.514_518del NP_001315557.1:p.Lys172PhefsTer?
NM_001328629.1:c.709_713del NP_001315558.1:p.Lys237PhefsTer?
NM_001328630.1:c.376_380del NP_001315559.1:p.Lys126PhefsTer?
XM_011542017.2:c.928_932del XP_011540319.1:p.Lys310PhefsTer?
XM_017002152.2:c.628_632del XP_016857641.1:p.Lys210PhefsTer?
XM_017002153.2:c.595_599del XP_016857642.1:p.Lys199PhefsTer?
XM_024449295.1:c.514_518del XP_024305063.1:p.Lys172PhefsTer?
NM_001024845.3:c.709_713del MANE Select NP_001020016.1:p.Lys237PhefsTer?
NM_001261380.2:c.721_725del NP_001248309.1:p.Lys241PhefsTer?
NM_001328626.2:c.376_380del NP_001315555.1:p.Lys126PhefsTer?
NM_001328630.2:c.376_380del NP_001315559.1:p.Lys126PhefsTer?
NM_006934.4:c.766_770del NP_008865.2:p.Lys256PhefsTer?
NM_201649.4:c.928_932del NP_964012.2:p.Lys310PhefsTer?
NR_048548.2:n.796_800del
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