Canonical Allele Identifier: CA2627635396

Gene: SLC12A6

Linked Data

• gnomAD v4: 15-34261042-A-AGGTAAATCATGGTTGTCCTATAAAAAGATCACATGTCAAAGATTTTACTTATTAATTCATGAGGAAATGAAGATTTTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34261042_34261043insGGTAAATCATGGTTGTCCTATAAAAAGATCACATGTCAAAGATTTTACTTATTAATTCATGAGGAAATGAAGATTTTAC , CM000677.2:g.34261042_34261043insGGTAAATCATGGTTGTCCTATAAAAAGATCACATGTCAAAGATTTTACTTATTAATTCATGAGGAAATGAAGATTTTAC	GRCh38
NC_000015.9:g.34553243_34553244insGGTAAATCATGGTTGTCCTATAAAAAGATCACATGTCAAAGATTTTACTTATTAATTCATGAGGAAATGAAGATTTTAC , CM000677.1:g.34553243_34553244insGGTAAATCATGGTTGTCCTATAAAAAGATCACATGTCAAAGATTTTACTTATTAATTCATGAGGAAATGAAGATTTTAC	GRCh37
NC_000015.8:g.32340535_32340536insGGTAAATCATGGTTGTCCTATAAAAAGATCACATGTCAAAGATTTTACTTATTAATTCATGAGGAAATGAAGATTTTAC	NCBI36
NG_007951.1:g.82022_82023insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC , LRG_270:g.82022_82023insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354181.8:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC MANE Select	ENSP00000346112.3:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000675289.1:n.1099-23_1099-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC
ENST00000676379.1:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000502539.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000290209.9:c.164-23_164-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000290209.5:n.164-23_164-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000354181.7:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000346112.3:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000397702.6:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000380814.2:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000397707.6:c.272-23_272-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000380819.2:n.272-23_272-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000458406.6:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000387725.2:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000558589.5:c.290-23_290-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000452776.1:n.290-23_290-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000558667.5:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000453473.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000559236.5:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000452828.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000559484.1:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000452857.1:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000559523.5:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000452904.1:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000559664.5:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000453702.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000560164.5:c.-101-23_-101-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000452705.1:n.-101-23_-101-22insGTAAAATCTTCATTTCCTCATGA...
ENST00000560332.1:c.-101-23_-101-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000454037.1:n.-101-23_-101-22insGTAAAATCTTCATTTCCTCATGA...
ENST00000560611.5:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000454168.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000561080.5:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000454069.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAAT...
ENST00000561120.5:c.290-23_290-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	ENSP00000452771.1:n.290-23_290-22insGTAAAATCTTCATTTCCTCATGAAT...
NM_001042494.1:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035959.1:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_001042495.1:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035960.1:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_001042496.1:c.290-23_290-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035961.1:n.290-23_290-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_001042497.1:c.272-23_272-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035962.1:n.272-23_272-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_005135.2:c.164-23_164-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC , LRG_270t1:c.164-23_164-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_005126.1:n.164-23_164-22insGTAAAATCTTCATTTCCTCATGAATTAATAA...
NM_133647.1:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC , LRG_270t2:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_598408.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAA...
XM_006720793.2:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	XP_006720856.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XM_011522267.1:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	XP_011520569.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XM_011522268.1:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	XP_011520570.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XM_011522269.1:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	XP_011520571.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XR_429476.2:n.323-23_323-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC
XR_931960.1:n.323-23_323-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC
XR_931961.1:n.323-23_323-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC
NM_001365088.1:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC MANE Select	NP_001352017.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XM_006720793.4:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	XP_006720856.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XM_011522269.3:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	XP_011520571.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAA...
XR_931960.3:n.1567-23_1567-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC
NM_001042494.2:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035959.1:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_001042495.2:c.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035960.1:n.140-23_140-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_001042496.2:c.290-23_290-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035961.1:n.290-23_290-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_001042497.2:c.272-23_272-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_001035962.1:n.272-23_272-22insGTAAAATCTTCATTTCCTCATGAATTAA...
NM_133647.2:c.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAAGTAAAATCTTTGACATGTGATCTTTTTATAGGACAACCATGATTTACC	NP_598408.1:n.317-23_317-22insGTAAAATCTTCATTTCCTCATGAATTAATAA...