Canonical Allele Identifier: CA2580089325

Gene: SLC12A6

Linked Data

• ClinVar Variation Id: 1725625
• ClinVar RCV Id: RCV002309309

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34257777del , CM000677.2:g.34257777del	GRCh38
NC_000015.9:g.34549978del , CM000677.1:g.34549978del	GRCh37
NC_000015.8:g.32337270del	NCBI36
NG_007951.1:g.85290del , LRG_270:g.85290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.557del MANE Select	ENSP00000346112.3:p.Gly186ValfsTer17
ENST00000675289.1:n.1339del
ENST00000676379.1:c.557del	ENSP00000502539.1:p.Gly186ValfsTer17
ENST00000290209.9:c.404del	ENSP00000290209.5:p.Gly135ValfsTer17
ENST00000354181.7:c.557del	ENSP00000346112.3:p.Gly186ValfsTer17
ENST00000397702.6:c.380del	ENSP00000380814.2:p.Gly127ValfsTer17
ENST00000397707.6:c.512del	ENSP00000380819.2:p.Gly171ValfsTer17
ENST00000458406.6:c.380del	ENSP00000387725.2:p.Gly127ValfsTer17
ENST00000558589.5:c.530del	ENSP00000452776.1:p.Gly177ValfsTer17
ENST00000558667.5:c.557del	ENSP00000453473.1:p.Gly186ValfsTer17
ENST00000559523.5:c.380del	ENSP00000452904.1:p.Gly127ValfsTer17
ENST00000559664.5:c.557del	ENSP00000453702.1:p.Gly186ValfsTer17
ENST00000560164.5:c.126+1038del	ENSP00000452705.1:n.126+1038del
ENST00000560332.1:c.140del	ENSP00000454037.1:p.Gly47ValfsTer17
ENST00000560611.5:c.557del	ENSP00000454168.1:p.Gly186ValfsTer17
ENST00000561080.5:c.557del	ENSP00000454069.1:p.Gly186ValfsTer17
NM_001042494.1:c.380del	NP_001035959.1:p.Gly127ValfsTer17
NM_001042495.1:c.380del	NP_001035960.1:p.Gly127ValfsTer17
NM_001042496.1:c.530del	NP_001035961.1:p.Gly177ValfsTer17
NM_001042497.1:c.512del	NP_001035962.1:p.Gly171ValfsTer17
NM_005135.2:c.404del , LRG_270t1:c.404del	NP_005126.1:p.Gly135ValfsTer17
NM_133647.1:c.557del , LRG_270t2:c.557del	NP_598408.1:p.Gly186ValfsTer17
XM_006720793.2:c.543+1038del	XP_006720856.1:n.543+1038del
XM_011522267.1:c.557del	XP_011520569.1:p.Gly186ValfsTer17
XM_011522268.1:c.557del	XP_011520570.1:p.Gly186ValfsTer17
XM_011522269.1:c.557del	XP_011520571.1:p.Gly186ValfsTer17
XR_429476.2:n.563del
XR_931960.1:n.563del
XR_931961.1:n.563del
NM_001365088.1:c.557del MANE Select	NP_001352017.1:p.Gly186ValfsTer17
XM_006720793.4:c.543+1038del	XP_006720856.1:n.543+1038del
XM_011522269.3:c.557del	XP_011520571.1:p.Gly186ValfsTer17
XR_931960.3:n.1807del
NM_001042494.2:c.380del	NP_001035959.1:p.Gly127ValfsTer17
NM_001042495.2:c.380del	NP_001035960.1:p.Gly127ValfsTer17
NM_001042496.2:c.530del	NP_001035961.1:p.Gly177ValfsTer17
NM_001042497.2:c.512del	NP_001035962.1:p.Gly171ValfsTer17
NM_133647.2:c.557del	NP_598408.1:p.Gly186ValfsTer17