Canonical Allele Identifier: CA253472
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236749_34236758del , CM000677.2:g.34236749_34236758del GRCh38
NC_000015.9:g.34528950_34528959del , CM000677.1:g.34528950_34528959del GRCh37
NC_000015.8:g.32316242_32316251del NCBI36
NG_007951.1:g.106310_106319del , LRG_270:g.106310_106319del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.2995_3004del MANE Select ENSP00000346112.3:p.Gln999GlyfsTer17
ENST00000676379.1:c.2995_3004del ENSP00000502539.1:p.Gln999GlyfsTer17
ENST00000290209.9:c.2842_2851del ENSP00000290209.5:p.Gln948GlyfsTer17
ENST00000354181.7:c.2995_3004del ENSP00000346112.3:p.Gln999GlyfsTer17
ENST00000397702.6:c.2818_2827del ENSP00000380814.2:p.Gln940GlyfsTer17
ENST00000397707.6:c.2950_2959del ENSP00000380819.2:p.Gln984GlyfsTer17
ENST00000458406.6:c.2818_2827del ENSP00000387725.2:p.Gln940GlyfsTer17
ENST00000558589.5:c.2968_2977del ENSP00000452776.1:p.Gln990GlyfsTer17
ENST00000558667.5:c.2995_3004del ENSP00000453473.1:p.Gln999GlyfsTer17
ENST00000559523.5:c.*18_*27del ENSP00000452904.1:n.*18_*27del
ENST00000559664.5:c.*204_*213del ENSP00000453702.1:n.*204_*213del
ENST00000560164.5:c.2431_2440del ENSP00000452705.1:p.Gln811GlyfsTer17
ENST00000560611.5:c.2995_3004del ENSP00000454168.1:p.Gln999GlyfsTer17
ENST00000561080.5:c.*233_*242del ENSP00000454069.1:n.*233_*242del
NM_001042494.1:c.2818_2827del NP_001035959.1:p.Gln940GlyfsTer17
NM_001042495.1:c.2818_2827del NP_001035960.1:p.Gln940GlyfsTer17
NM_001042496.1:c.2968_2977del NP_001035961.1:p.Gln990GlyfsTer17
NM_001042497.1:c.2950_2959del NP_001035962.1:p.Gln984GlyfsTer17
NM_005135.2:c.2842_2851del , LRG_270t1:c.2842_2851del NP_005126.1:p.Gln948GlyfsTer17
NM_133647.1:c.2995_3004del , LRG_270t2:c.2995_3004del NP_598408.1:p.Gln999GlyfsTer17
XM_006720793.2:c.2848_2857del XP_006720856.1:p.Gln950GlyfsTer17
XM_011522267.1:c.2995_3004del XP_011520569.1:p.Gln999GlyfsTer17
XM_011522268.1:c.2995_3004del XP_011520570.1:p.Gln999GlyfsTer17
XR_429476.2:n.3001_3010del
XR_931960.1:n.3030_3039del
NM_001365088.1:c.2995_3004del MANE Select NP_001352017.1:p.Gln999GlyfsTer17
XM_006720793.4:c.2848_2857del XP_006720856.1:p.Gln950GlyfsTer17
XR_931960.3:n.4274_4283del
NM_001042494.2:c.2818_2827del NP_001035959.1:p.Gln940GlyfsTer17
NM_001042495.2:c.2818_2827del NP_001035960.1:p.Gln940GlyfsTer17
NM_001042496.2:c.2968_2977del NP_001035961.1:p.Gln990GlyfsTer17
NM_001042497.2:c.2950_2959del NP_001035962.1:p.Gln984GlyfsTer17
NM_133647.2:c.2995_3004del NP_598408.1:p.Gln999GlyfsTer17