Canonical Allele Identifier: CA345669
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34250637_34250638delinsC , CM000677.2:g.34250637_34250638delinsC GRCh38
NC_000015.9:g.34542838_34542839delinsC , CM000677.1:g.34542838_34542839delinsC GRCh37
NC_000015.8:g.32330130_32330131delinsC NCBI36
NG_007951.1:g.92427_92428delinsG , LRG_270:g.92427_92428delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.1584_1585delinsG MANE Select ENSP00000346112.3:p.Phe529LeufsTer4
ENST00000675289.1:n.2366_2367delinsG
ENST00000676379.1:c.1584_1585delinsG ENSP00000502539.1:p.Phe529LeufsTer4
ENST00000290209.9:c.1431_1432delinsG ENSP00000290209.5:p.Phe478LeufsTer4
ENST00000354181.7:c.1584_1585delinsG ENSP00000346112.3:p.Phe529LeufsTer4
ENST00000397702.6:c.1407_1408delinsG ENSP00000380814.2:p.Phe470LeufsTer4
ENST00000397707.6:c.1539_1540delinsG ENSP00000380819.2:p.Phe514LeufsTer4
ENST00000458406.6:c.1407_1408delinsG ENSP00000387725.2:p.Phe470LeufsTer4
ENST00000558589.5:c.1557_1558delinsG ENSP00000452776.1:p.Phe520LeufsTer4
ENST00000558667.5:c.1584_1585delinsG ENSP00000453473.1:p.Phe529LeufsTer4
ENST00000559523.5:c.1407_1408delinsG ENSP00000452904.1:p.Phe470LeufsTer4
ENST00000559664.5:c.1584_1585delinsG ENSP00000453702.1:p.Phe529LeufsTer4
ENST00000560164.5:c.1020_1021delinsG ENSP00000452705.1:p.Phe341LeufsTer4
ENST00000560611.5:c.1584_1585delinsG ENSP00000454168.1:p.Phe529LeufsTer4
ENST00000561080.5:c.1584_1585delinsG ENSP00000454069.1:p.Phe529LeufsTer4
NM_001042494.1:c.1407_1408delinsG NP_001035959.1:p.Phe470LeufsTer4
NM_001042495.1:c.1407_1408delinsG NP_001035960.1:p.Phe470LeufsTer4
NM_001042496.1:c.1557_1558delinsG NP_001035961.1:p.Phe520LeufsTer4
NM_001042497.1:c.1539_1540delinsG NP_001035962.1:p.Phe514LeufsTer4
NM_005135.2:c.1431_1432delinsG , LRG_270t1:c.1431_1432delinsG NP_005126.1:p.Phe478LeufsTer4
NM_133647.1:c.1584_1585delinsG , LRG_270t2:c.1584_1585delinsG NP_598408.1:p.Phe529LeufsTer4
XM_006720793.2:c.1437_1438delinsG XP_006720856.1:p.Phe480LeufsTer4
XM_011522267.1:c.1584_1585delinsG XP_011520569.1:p.Phe529LeufsTer4
XM_011522268.1:c.1584_1585delinsG XP_011520570.1:p.Phe529LeufsTer4
XM_011522269.1:c.1584_1585delinsG XP_011520571.1:p.Phe529LeufsTer4
XR_429476.2:n.1590_1591delinsG
XR_931960.1:n.1590_1591delinsG
XR_931961.1:n.1590_1591delinsG
NM_001365088.1:c.1584_1585delinsG MANE Select NP_001352017.1:p.Phe529LeufsTer4
XM_006720793.4:c.1437_1438delinsG XP_006720856.1:p.Phe480LeufsTer4
XM_011522269.3:c.1584_1585delinsG XP_011520571.1:p.Phe529LeufsTer4
XR_931960.3:n.2834_2835delinsG
NM_001042494.2:c.1407_1408delinsG NP_001035959.1:p.Phe470LeufsTer4
NM_001042495.2:c.1407_1408delinsG NP_001035960.1:p.Phe470LeufsTer4
NM_001042496.2:c.1557_1558delinsG NP_001035961.1:p.Phe520LeufsTer4
NM_001042497.2:c.1539_1540delinsG NP_001035962.1:p.Phe514LeufsTer4
NM_133647.2:c.1584_1585delinsG NP_598408.1:p.Phe529LeufsTer4