Canonical Allele Identifier: CA16041714
Gene: SLC12A6 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371461
ClinVar RCV Id: RCV000408984
dbSNP Id: rs1057517289

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34236022dup , CM000677.2:g.34236022dup GRCh38
NC_000015.9:g.34528223dup , CM000677.1:g.34528223dup GRCh37
NC_000015.8:g.32315515dup NCBI36
NG_007951.1:g.107043dup , LRG_270:g.107043dup

Transcript Alleles

HGVS Amino-acid change
NM_001042494.1:c.3043dup VV NP_001035959.1:p.Met1015AsnfsTer23
NM_001042495.1:c.3043dup VV NP_001035960.1:p.Met1015AsnfsTer23
NM_001042496.1:c.3193dup VV NP_001035961.1:p.Met1065AsnfsTer23
NM_001042497.1:c.3175dup VV NP_001035962.1:p.Met1059AsnfsTer23
NM_005135.2:c.3067dup , LRG_270t1:c.3067dup NP_005126.1:p.Met1023AsnfsTer23
NM_133647.1:c.3220dup , LRG_270t2:c.3220dup NP_598408.1:p.Met1074AsnfsTer23
XM_006720793.2:c.3073dup XP_006720856.1:p.Met1025AsnfsTer23
XM_011522267.1:c.3220dup XP_011520569.1:p.Met1074AsnfsTer23
XM_011522268.1:c.3220dup XP_011520570.1:p.Met1074AsnfsTer23
XR_429476.2:n.3226dup
NM_001365088.1:c.3220dup VV NP_001352017.1:p.Met1074AsnfsTer23
XM_006720793.4:c.3073dup XP_006720856.1:p.Met1025AsnfsTer23
XR_931960.3:n.4499dup
ENST00000290209.9:c.3067dup ENSP00000290209.5:p.Met1023AsnfsTer23
ENST00000354181.7:c.3220dup ENSP00000346112.3:p.Met1074AsnfsTer23
ENST00000397702.6:c.3043dup ENSP00000380814.2:p.Met1015AsnfsTer23
ENST00000397707.6:c.3175dup ENSP00000380819.2:p.Met1059AsnfsTer23
ENST00000458406.6:c.3043dup ENSP00000387725.2:p.Met1015AsnfsTer23
ENST00000558589.5:c.3193dup ENSP00000452776.1:p.Met1065AsnfsTer23
ENST00000558667.5:c.3220dup ENSP00000453473.1:p.Met1074AsnfsTer23
ENST00000559523.5:c.*243dup ENSP00000452904.1:p.=
ENST00000559664.5:c.*429dup ENSP00000453702.1:p.=
ENST00000560164.5:c.2656dup ENSP00000452705.1:p.Met886AsnfsTer23
ENST00000560611.5:c.3220dup ENSP00000454168.1:p.Met1074AsnfsTer23
ENST00000561080.5:c.*458dup ENSP00000454069.1:p.=