Canonical Allele Identifier: CA340395
Gene: SLC12A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 436730
dbSNP Id: rs515726215

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.34240661del , CM000677.2:g.34240661del GRCh38
NC_000015.9:g.34532862del , CM000677.1:g.34532862del GRCh37
NC_000015.8:g.32320154del NCBI36
NG_007951.1:g.102405del , LRG_270:g.102405del

Transcript Alleles

HGVS Amino-acid change
ENST00000354181.8:c.2436+1del
ENST00000676379.1:c.2436+1del
ENST00000290209.9:c.2283+1del
ENST00000354181.7:c.2436+1del
ENST00000397702.6:c.2259+1del
ENST00000397707.6:c.2391+1del
ENST00000458406.6:c.2259+1del
ENST00000558589.5:c.2409+1del
ENST00000558667.5:c.2436+1del
ENST00000558950.1:n.384+1del
ENST00000559523.5:c.2259+1del
ENST00000559664.5:c.2436+1del
ENST00000560164.5:c.1872+1del
ENST00000560611.5:c.2436+1del
ENST00000561080.5:c.2436+1del
NM_001042494.1:c.2259+1del
NM_001042495.1:c.2259+1del
NM_001042496.1:c.2409+1del
NM_001042497.1:c.2391+1del
NM_005135.2:c.2283+1del , LRG_270t1:c.2283+1del
NM_133647.1:c.2436+1del , LRG_270t2:c.2436+1del
XM_006720793.2:c.2289+1del
XM_011522267.1:c.2436+1del
XM_011522268.1:c.2436+1del
XR_429476.2:n.2442+1del
XR_931960.1:n.2442+1del
XR_931961.1:n.2443+1del
NM_001365088.1:c.2436+1del
XM_006720793.4:c.2289+1del
XR_931960.3:n.3686+1del
NM_001042494.2:c.2259+1del
NM_001042495.2:c.2259+1del
NM_001042496.2:c.2409+1del
NM_001042497.2:c.2391+1del
NM_133647.2:c.2436+1del