Canonical Allele Identifier: CA345673

Gene: SLC12A6

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34250909_34250916del , CM000677.2:g.34250909_34250916del	GRCh38
NC_000015.9:g.34543110_34543117del , CM000677.1:g.34543110_34543117del	GRCh37
NC_000015.8:g.32330402_32330409del	NCBI36
NG_007951.1:g.92152_92159del , LRG_270:g.92152_92159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.1478_1485del MANE Select	ENSP00000346112.3:p.Phe493CysfsTer?
ENST00000675289.1:n.2260_2267del
ENST00000676379.1:c.1478_1485del	ENSP00000502539.1:p.Phe493CysfsTer?
ENST00000290209.9:c.1325_1332del	ENSP00000290209.5:p.Phe442CysfsTer?
ENST00000354181.7:c.1478_1485del	ENSP00000346112.3:p.Phe493CysfsTer?
ENST00000397702.6:c.1301_1308del	ENSP00000380814.2:p.Phe434CysfsTer?
ENST00000397707.6:c.1433_1440del	ENSP00000380819.2:p.Phe478CysfsTer?
ENST00000458406.6:c.1301_1308del	ENSP00000387725.2:p.Phe434CysfsTer?
ENST00000558589.5:c.1451_1458del	ENSP00000452776.1:p.Phe484CysfsTer?
ENST00000558667.5:c.1478_1485del	ENSP00000453473.1:p.Phe493CysfsTer?
ENST00000559523.5:c.1301_1308del	ENSP00000452904.1:p.Phe434CysfsTer?
ENST00000559664.5:c.1478_1485del	ENSP00000453702.1:p.Phe493CysfsTer?
ENST00000560164.5:c.914_921del	ENSP00000452705.1:p.Phe305CysfsTer?
ENST00000560611.5:c.1478_1485del	ENSP00000454168.1:p.Phe493CysfsTer?
ENST00000561080.5:c.1478_1485del	ENSP00000454069.1:p.Phe493CysfsTer?
NM_001042494.1:c.1301_1308del	NP_001035959.1:p.Phe434CysfsTer?
NM_001042495.1:c.1301_1308del	NP_001035960.1:p.Phe434CysfsTer?
NM_001042496.1:c.1451_1458del	NP_001035961.1:p.Phe484CysfsTer?
NM_001042497.1:c.1433_1440del	NP_001035962.1:p.Phe478CysfsTer?
NM_005135.2:c.1325_1332del , LRG_270t1:c.1325_1332del	NP_005126.1:p.Phe442CysfsTer?
NM_133647.1:c.1478_1485del , LRG_270t2:c.1478_1485del	NP_598408.1:p.Phe493CysfsTer?
XM_006720793.2:c.1331_1338del	XP_006720856.1:p.Phe444CysfsTer?
XM_011522267.1:c.1478_1485del	XP_011520569.1:p.Phe493CysfsTer?
XM_011522268.1:c.1478_1485del	XP_011520570.1:p.Phe493CysfsTer?
XM_011522269.1:c.1478_1485del	XP_011520571.1:p.Phe493CysfsTer?
XR_429476.2:n.1484_1491del
XR_931960.1:n.1484_1491del
XR_931961.1:n.1484_1491del
NM_001365088.1:c.1478_1485del MANE Select	NP_001352017.1:p.Phe493CysfsTer?
XM_006720793.4:c.1331_1338del	XP_006720856.1:p.Phe444CysfsTer?
XM_011522269.3:c.1478_1485del	XP_011520571.1:p.Phe493CysfsTer?
XR_931960.3:n.2728_2735del
NM_001042494.2:c.1301_1308del	NP_001035959.1:p.Phe434CysfsTer?
NM_001042495.2:c.1301_1308del	NP_001035960.1:p.Phe434CysfsTer?
NM_001042496.2:c.1451_1458del	NP_001035961.1:p.Phe484CysfsTer?
NM_001042497.2:c.1433_1440del	NP_001035962.1:p.Phe478CysfsTer?
NM_133647.2:c.1478_1485del	NP_598408.1:p.Phe493CysfsTer?