Canonical Allele Identifier: CA2627635232

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34260964-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34260966del , CM000677.2:g.34260966del	GRCh38
NC_000015.9:g.34553167del , CM000677.1:g.34553167del	GRCh37
NC_000015.8:g.32340459del	NCBI36
NG_007951.1:g.82100del , LRG_270:g.82100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.372del MANE Select	ENSP00000346112.3:p.Gly125GlufsTer?
ENST00000675289.1:n.1154del
ENST00000676379.1:c.372del	ENSP00000502539.1:p.Gly125GlufsTer?
ENST00000290209.9:c.219del	ENSP00000290209.5:p.Gly74GlufsTer?
ENST00000354181.7:c.372del	ENSP00000346112.3:p.Gly125GlufsTer?
ENST00000397702.6:c.195del	ENSP00000380814.2:p.Gly66GlufsTer?
ENST00000397707.6:c.327del	ENSP00000380819.2:p.Gly110GlufsTer?
ENST00000458406.6:c.195del	ENSP00000387725.2:p.Gly66GlufsTer?
ENST00000558589.5:c.345del	ENSP00000452776.1:p.Gly116GlufsTer?
ENST00000558667.5:c.372del	ENSP00000453473.1:p.Gly125GlufsTer?
ENST00000559236.5:c.372del	ENSP00000452828.1:p.Gly125GlufsTer?
ENST00000559523.5:c.195del	ENSP00000452904.1:p.Gly66GlufsTer?
ENST00000559664.5:c.372del	ENSP00000453702.1:p.Gly125GlufsTer?
ENST00000560164.5:c.-46del	ENSP00000452705.1:n.-46del
ENST00000560332.1:c.-46del	ENSP00000454037.1:n.-46del
ENST00000560611.5:c.372del	ENSP00000454168.1:p.Gly125GlufsTer?
ENST00000561080.5:c.372del	ENSP00000454069.1:p.Gly125GlufsTer?
ENST00000561120.5:c.345del	ENSP00000452771.1:p.Gly116GlufsTer?
NM_001042494.1:c.195del	NP_001035959.1:p.Gly66GlufsTer?
NM_001042495.1:c.195del	NP_001035960.1:p.Gly66GlufsTer?
NM_001042496.1:c.345del	NP_001035961.1:p.Gly116GlufsTer?
NM_001042497.1:c.327del	NP_001035962.1:p.Gly110GlufsTer?
NM_005135.2:c.219del , LRG_270t1:c.219del	NP_005126.1:p.Gly74GlufsTer?
NM_133647.1:c.372del , LRG_270t2:c.372del	NP_598408.1:p.Gly125GlufsTer?
XM_006720793.2:c.372del	XP_006720856.1:p.Gly125GlufsTer?
XM_011522267.1:c.372del	XP_011520569.1:p.Gly125GlufsTer?
XM_011522268.1:c.372del	XP_011520570.1:p.Gly125GlufsTer?
XM_011522269.1:c.372del	XP_011520571.1:p.Gly125GlufsTer?
XR_429476.2:n.378del
XR_931960.1:n.378del
XR_931961.1:n.378del
NM_001365088.1:c.372del MANE Select	NP_001352017.1:p.Gly125GlufsTer?
XM_006720793.4:c.372del	XP_006720856.1:p.Gly125GlufsTer?
XM_011522269.3:c.372del	XP_011520571.1:p.Gly125GlufsTer?
XR_931960.3:n.1622del
NM_001042494.2:c.195del	NP_001035959.1:p.Gly66GlufsTer?
NM_001042495.2:c.195del	NP_001035960.1:p.Gly66GlufsTer?
NM_001042496.2:c.345del	NP_001035961.1:p.Gly116GlufsTer?
NM_001042497.2:c.327del	NP_001035962.1:p.Gly110GlufsTer?
NM_133647.2:c.372del	NP_598408.1:p.Gly125GlufsTer?