Canonical Allele Identifier: CA2574345915

Gene: SLC6A9

Linked Data

• ClinVar Variation Id: 2099475
• ClinVar RCV Id: RCV003023016

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.43997571_43997577del , CM000663.2:g.43997571_43997577del	GRCh38
NC_000001.10:g.44463243_44463249del , CM000663.1:g.44463243_44463249del	GRCh37
NC_000001.9:g.44235830_44235836del	NCBI36
NG_050929.1:g.38917_38923del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372310.8:c.1871_1877del MANE Select	ENSP00000361384.4:p.Gly624AlafsTer29
ENST00000673836.1:c.1871_1877del	ENSP00000501314.1:p.Gly624AlafsTer29
ENST00000357730.6:c.1928_1934del	ENSP00000350362.2:p.Gly643AlafsTer?
ENST00000360584.6:c.2090_2096del	ENSP00000353791.2:p.Gly697AlafsTer?
ENST00000372306.7:c.1624+3191_1624+3197del	ENSP00000361380.3:n.1624+3191_1624+3197del
ENST00000372307.7:c.1341+3191_1341+3197del	ENSP00000361381.3:n.1341+3191_1341+3197del
ENST00000372310.7:c.1871_1877del	ENSP00000361384.3:p.Gly624AlafsTer29
ENST00000475075.6:c.1538_1544del	ENSP00000434460.1:p.Gly513AlafsTer29
NM_001024845.2:c.1871_1877del	NP_001020016.1:p.Gly624AlafsTer29
NM_001261380.1:c.1883_1889del	NP_001248309.1:p.Gly628AlafsTer29
NM_006934.3:c.1928_1934del	NP_008865.2:p.Gly643AlafsTer29
NM_201649.3:c.2090_2096del	NP_964012.2:p.Gly697AlafsTer29
NR_048548.1:n.2131_2137del
NR_048549.1:n.1854_1860del
NM_001328626.1:c.1538_1544del	NP_001315555.1:p.Gly513AlafsTer29
NM_001328627.1:c.1808_1814del	NP_001315556.1:p.Gly603AlafsTer29
NM_001328628.1:c.1676_1682del	NP_001315557.1:p.Gly559AlafsTer29
NM_001328629.1:c.1871_1877del	NP_001315558.1:p.Gly624AlafsTer29
NM_001328630.1:c.1367_1373del	NP_001315559.1:p.Gly456AlafsTer29
XM_017002152.2:c.1790_1796del	XP_016857641.1:p.Gly597AlafsTer29
XM_017002153.2:c.1757_1763del	XP_016857642.1:p.Gly586AlafsTer29
XM_024449295.1:c.1676_1682del	XP_024305063.1:p.Gly559AlafsTer29
NM_001024845.3:c.1871_1877del MANE Select	NP_001020016.1:p.Gly624AlafsTer29
NM_001261380.2:c.1883_1889del	NP_001248309.1:p.Gly628AlafsTer29
NM_001328626.2:c.1538_1544del	NP_001315555.1:p.Gly513AlafsTer29
NM_001328630.2:c.1367_1373del	NP_001315559.1:p.Gly456AlafsTer29
NM_006934.4:c.1928_1934del	NP_008865.2:p.Gly643AlafsTer29
NM_201649.4:c.2090_2096del	NP_964012.2:p.Gly697AlafsTer29
NR_048548.2:n.1954_1960del