Canonical Allele Identifier: CA16041721
Gene: SLC12A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 370371
ClinVar RCV Id: RCV000412042
dbSNP Id: rs1057516435
MyVariant Identifiers: chr15:g.34532875dupA (hg19) chr15:g.34532874_34532875insA (hg19) chr15:g.34240674dupA (hg38) chr15:g.34240673_34240674insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34240676dup , CM000677.2:g.34240676dup GRCh38
NC_000015.9:g.34532877dup , CM000677.1:g.34532877dup GRCh37
NC_000015.8:g.32320169dup NCBI36
NG_007951.1:g.102391dup , LRG_270:g.102391dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2423dup MANE Select ENSP00000346112.3:p.Leu808PhefsTer4
ENST00000676379.1:c.2423dup ENSP00000502539.1:p.Leu808PhefsTer4
ENST00000290209.9:c.2270dup ENSP00000290209.5:p.Leu757PhefsTer4
ENST00000354181.7:c.2423dup ENSP00000346112.3:p.Leu808PhefsTer4
ENST00000397702.6:c.2246dup ENSP00000380814.2:p.Leu749PhefsTer4
ENST00000397707.6:c.2378dup ENSP00000380819.2:p.Leu793PhefsTer4
ENST00000458406.6:c.2246dup ENSP00000387725.2:p.Leu749PhefsTer4
ENST00000558589.5:c.2396dup ENSP00000452776.1:p.Leu799PhefsTer4
ENST00000558667.5:c.2423dup ENSP00000453473.1:p.Leu808PhefsTer4
ENST00000558950.1:n.371dup
ENST00000559523.5:c.2246dup ENSP00000452904.1:p.Leu749PhefsTer4
ENST00000559664.5:c.2423dup ENSP00000453702.1:p.Leu808PhefsTer4
ENST00000560164.5:c.1859dup ENSP00000452705.1:p.Leu620PhefsTer4
ENST00000560611.5:c.2423dup ENSP00000454168.1:p.Leu808PhefsTer4
ENST00000561080.5:c.2423dup ENSP00000454069.1:p.Leu808PhefsTer4
NM_001042494.1:c.2246dup NP_001035959.1:p.Leu749PhefsTer4
NM_001042495.1:c.2246dup NP_001035960.1:p.Leu749PhefsTer4
NM_001042496.1:c.2396dup NP_001035961.1:p.Leu799PhefsTer4
NM_001042497.1:c.2378dup NP_001035962.1:p.Leu793PhefsTer4
NM_005135.2:c.2270dup , LRG_270t1:c.2270dup NP_005126.1:p.Leu757PhefsTer4
NM_133647.1:c.2423dup , LRG_270t2:c.2423dup NP_598408.1:p.Leu808PhefsTer4
XM_006720793.2:c.2276dup XP_006720856.1:p.Leu759PhefsTer4
XM_011522267.1:c.2423dup XP_011520569.1:p.Leu808PhefsTer4
XM_011522268.1:c.2423dup XP_011520570.1:p.Leu808PhefsTer4
XR_429476.2:n.2429dup
XR_931960.1:n.2429dup
XR_931961.1:n.2430dup
NM_001365088.1:c.2423dup MANE Select NP_001352017.1:p.Leu808PhefsTer4
XM_006720793.4:c.2276dup XP_006720856.1:p.Leu759PhefsTer4
XR_931960.3:n.3673dup
NM_001042494.2:c.2246dup NP_001035959.1:p.Leu749PhefsTer4
NM_001042495.2:c.2246dup NP_001035960.1:p.Leu749PhefsTer4
NM_001042496.2:c.2396dup NP_001035961.1:p.Leu799PhefsTer4
NM_001042497.2:c.2378dup NP_001035962.1:p.Leu793PhefsTer4
NM_133647.2:c.2423dup NP_598408.1:p.Leu808PhefsTer4
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