Canonical Allele Identifier: CA2580089246

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 1724596
• ClinVar RCV Id: RCV002309864

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260945_34260949delinsATA , CM000677.2:g.34260945_34260949delinsATA	GRCh38
NC_000015.9:g.34553146_34553150delinsATA , CM000677.1:g.34553146_34553150delinsATA	GRCh37
NC_000015.8:g.32340438_32340442delinsATA	NCBI36
NG_007951.1:g.82116_82120delinsTAT , LRG_270:g.82116_82120delinsTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.388_392delinsTAT MANE Select	ENSP00000346112.3:p.Asp130TyrfsTer7
ENST00000675289.1:n.1170_1174delinsTAT
ENST00000676379.1:c.388_392delinsTAT	ENSP00000502539.1:p.Asp130TyrfsTer7
ENST00000290209.9:c.235_239delinsTAT	ENSP00000290209.5:p.Asp79TyrfsTer7
ENST00000354181.7:c.388_392delinsTAT	ENSP00000346112.3:p.Asp130TyrfsTer7
ENST00000397702.6:c.211_215delinsTAT	ENSP00000380814.2:p.Asp71TyrfsTer7
ENST00000397707.6:c.343_347delinsTAT	ENSP00000380819.2:p.Asp115TyrfsTer7
ENST00000458406.6:c.211_215delinsTAT	ENSP00000387725.2:p.Asp71TyrfsTer7
ENST00000558589.5:c.361_365delinsTAT	ENSP00000452776.1:p.Asp121TyrfsTer7
ENST00000558667.5:c.388_392delinsTAT	ENSP00000453473.1:p.Asp130TyrfsTer7
ENST00000559236.5:c.388_392delinsTAT	ENSP00000452828.1:p.Asp130TyrfsTer?
ENST00000559523.5:c.211_215delinsTAT	ENSP00000452904.1:p.Asp71TyrfsTer7
ENST00000559664.5:c.388_392delinsTAT	ENSP00000453702.1:p.Asp130TyrfsTer7
ENST00000560164.5:c.-30_-26delinsTAT	ENSP00000452705.1:n.-30_-26delinsTAT
ENST00000560332.1:c.-30_-26delinsTAT	ENSP00000454037.1:n.-30_-26delinsTAT
ENST00000560611.5:c.388_392delinsTAT	ENSP00000454168.1:p.Asp130TyrfsTer7
ENST00000561080.5:c.388_392delinsTAT	ENSP00000454069.1:p.Asp130TyrfsTer7
ENST00000561120.5:c.361_365delinsTAT	ENSP00000452771.1:p.Asp121TyrfsTer7
NM_001042494.1:c.211_215delinsTAT	NP_001035959.1:p.Asp71TyrfsTer7
NM_001042495.1:c.211_215delinsTAT	NP_001035960.1:p.Asp71TyrfsTer7
NM_001042496.1:c.361_365delinsTAT	NP_001035961.1:p.Asp121TyrfsTer7
NM_001042497.1:c.343_347delinsTAT	NP_001035962.1:p.Asp115TyrfsTer7
NM_005135.2:c.235_239delinsTAT , LRG_270t1:c.235_239delinsTAT	NP_005126.1:p.Asp79TyrfsTer7
NM_133647.1:c.388_392delinsTAT , LRG_270t2:c.388_392delinsTAT	NP_598408.1:p.Asp130TyrfsTer7
XM_006720793.2:c.388_392delinsTAT	XP_006720856.1:p.Asp130TyrfsTer7
XM_011522267.1:c.388_392delinsTAT	XP_011520569.1:p.Asp130TyrfsTer7
XM_011522268.1:c.388_392delinsTAT	XP_011520570.1:p.Asp130TyrfsTer7
XM_011522269.1:c.388_392delinsTAT	XP_011520571.1:p.Asp130TyrfsTer7
XR_429476.2:n.394_398delinsTAT
XR_931960.1:n.394_398delinsTAT
XR_931961.1:n.394_398delinsTAT
NM_001365088.1:c.388_392delinsTAT MANE Select	NP_001352017.1:p.Asp130TyrfsTer7
XM_006720793.4:c.388_392delinsTAT	XP_006720856.1:p.Asp130TyrfsTer7
XM_011522269.3:c.388_392delinsTAT	XP_011520571.1:p.Asp130TyrfsTer7
XR_931960.3:n.1638_1642delinsTAT
NM_001042494.2:c.211_215delinsTAT	NP_001035959.1:p.Asp71TyrfsTer7
NM_001042495.2:c.211_215delinsTAT	NP_001035960.1:p.Asp71TyrfsTer7
NM_001042496.2:c.361_365delinsTAT	NP_001035961.1:p.Asp121TyrfsTer7
NM_001042497.2:c.343_347delinsTAT	NP_001035962.1:p.Asp115TyrfsTer7
NM_133647.2:c.388_392delinsTAT	NP_598408.1:p.Asp130TyrfsTer7