Canonical Allele Identifier: CA16041712
Gene: SLC12A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34235234_34235238del , CM000677.2:g.34235234_34235238del GRCh38
NC_000015.9:g.34527435_34527439del , CM000677.1:g.34527435_34527439del GRCh37
NC_000015.8:g.32314727_32314731del NCBI36
NG_007951.1:g.107827_107831del , LRG_270:g.107827_107831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354181.8:c.3304_3308del MANE Select ENSP00000346112.3:p.Lys1102GlyfsTer13
ENST00000676379.1:c.3304_3308del ENSP00000502539.1:p.Lys1102GlyfsTer13
ENST00000290209.9:c.3151_3155del ENSP00000290209.5:p.Lys1051GlyfsTer13
ENST00000354181.7:c.3304_3308del ENSP00000346112.3:p.Lys1102GlyfsTer13
ENST00000397702.6:c.3127_3131del ENSP00000380814.2:p.Lys1043GlyfsTer13
ENST00000397707.6:c.3259_3263del ENSP00000380819.2:p.Lys1087GlyfsTer13
ENST00000458406.6:c.3127_3131del ENSP00000387725.2:p.Lys1043GlyfsTer13
ENST00000558589.5:c.3277_3281del ENSP00000452776.1:p.Lys1093GlyfsTer13
ENST00000558667.5:c.3304_3308del ENSP00000453473.1:p.Lys1102GlyfsTer13
ENST00000559523.5:c.*327_*331del ENSP00000452904.1:n.*327_*331del
ENST00000559664.5:c.*513_*517del ENSP00000453702.1:n.*513_*517del
ENST00000560164.5:c.2740_2744del ENSP00000452705.1:p.Lys914GlyfsTer13
ENST00000560611.5:c.3304_3308del ENSP00000454168.1:p.Lys1102GlyfsTer13
ENST00000561080.5:c.*542_*546del ENSP00000454069.1:n.*542_*546del
NM_001042494.1:c.3127_3131del NP_001035959.1:p.Lys1043GlyfsTer13
NM_001042495.1:c.3127_3131del NP_001035960.1:p.Lys1043GlyfsTer13
NM_001042496.1:c.3277_3281del NP_001035961.1:p.Lys1093GlyfsTer13
NM_001042497.1:c.3259_3263del NP_001035962.1:p.Lys1087GlyfsTer13
NM_005135.2:c.3151_3155del , LRG_270t1:c.3151_3155del NP_005126.1:p.Lys1051GlyfsTer13
NM_133647.1:c.3304_3308del , LRG_270t2:c.3304_3308del NP_598408.1:p.Lys1102GlyfsTer13
XM_006720793.2:c.3157_3161del XP_006720856.1:p.Lys1053GlyfsTer13
XM_011522267.1:c.3304_3308del XP_011520569.1:p.Lys1102GlyfsTer13
XM_011522268.1:c.3304_3308del XP_011520570.1:p.Lys1102GlyfsTer13
XR_429476.2:n.3310_3314del
NM_001365088.1:c.3304_3308del MANE Select NP_001352017.1:p.Lys1102GlyfsTer13
XM_006720793.4:c.3157_3161del XP_006720856.1:p.Lys1053GlyfsTer13
XR_931960.3:n.4583_4587del
NM_001042494.2:c.3127_3131del NP_001035959.1:p.Lys1043GlyfsTer13
NM_001042495.2:c.3127_3131del NP_001035960.1:p.Lys1043GlyfsTer13
NM_001042496.2:c.3277_3281del NP_001035961.1:p.Lys1093GlyfsTer13
NM_001042497.2:c.3259_3263del NP_001035962.1:p.Lys1087GlyfsTer13
NM_133647.2:c.3304_3308del NP_598408.1:p.Lys1102GlyfsTer13