Canonical Allele Identifier: CA2628314740
Gene: SLC12A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48226597_48226598del , CM000677.2:g.48226597_48226598del GRCh38
NC_000015.9:g.48518794_48518795del , CM000677.1:g.48518794_48518795del GRCh37
NC_000015.8:g.46306086_46306087del NCBI36
NG_021301.1:g.25297_25298del

Transcript Alleles

HGVS Amino-acid change
ENST00000686073.1:c.724+650_724+651del ENSP00000508901.1:n.724+650_724+651del
ENST00000380993.8:c.724+26_724+27del MANE Select ENSP00000370381.3:n.724+26_724+27del
ENST00000646012.1:c.862+26_862+27del ENSP00000495813.1:n.862+26_862+27del
ENST00000647232.1:c.629-482_629-481del ENSP00000493875.1:n.629-482_629-481del
ENST00000647546.1:c.724+26_724+27del ENSP00000495332.1:n.724+26_724+27del
ENST00000330289.10:c.724+26_724+27del ENSP00000331550.6:n.724+26_724+27del
ENST00000380993.7:c.724+26_724+27del ENSP00000370381.3:n.724+26_724+27del
ENST00000396577.7:c.629-482_629-481del ENSP00000379822.3:n.629-482_629-481del
ENST00000558252.5:n.4270_4271del
ENST00000558405.5:c.724+26_724+27del ENSP00000453409.1:n.724+26_724+27del
ENST00000559641.5:c.163+26_163+27del ENSP00000453230.1:n.163+26_163+27del
ENST00000559723.2:n.97+650_97+651del
ENST00000560692.5:n.2272_2273del
ENST00000561127.5:c.163+26_163+27del ENSP00000453602.2:n.163+26_163+27del
NM_000338.2:c.724+26_724+27del NP_000329.2:n.724+26_724+27del
NM_001184832.1:c.629-482_629-481del NP_001171761.1:n.629-482_629-481del
XM_005254605.1:c.724+26_724+27del XP_005254662.1:n.724+26_724+27del
XM_005254606.1:c.724+650_724+651del XP_005254663.1:n.724+650_724+651del
XM_006720656.1:c.724+26_724+27del XP_006720719.1:n.724+26_724+27del
XR_931896.1:n.940+26_940+27del
XM_005254606.2:c.724+650_724+651del XP_005254663.1:n.724+650_724+651del
XR_001751524.2:n.363+864_363+865del
XR_001751525.1:n.363+864_363+865del
XR_002957762.1:n.363+864_363+865del
XR_932204.3:n.357+864_357+865del
NM_000338.3:c.724+26_724+27del MANE Select NP_000329.2:n.724+26_724+27del
NM_001184832.2:c.629-482_629-481del NP_001171761.1:n.629-482_629-481del
NM_001384136.1:c.724+650_724+651del NP_001371065.1:n.724+650_724+651del