Canonical Allele Identifier: CA2643562574
Gene: CLCNKB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16048162_16048173del , CM000663.2:g.16048162_16048173del GRCh38
NC_000001.10:g.16374657_16374668del , CM000663.1:g.16374657_16374668del GRCh37
NC_000001.9:g.16247244_16247255del NCBI36
NG_013079.1:g.9411_9422del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.498+118_498+129del ENSP00000507062.1:n.498+118_498+129del
ENST00000682793.1:c.498+118_498+129del ENSP00000506910.1:n.498+118_498+129del
ENST00000682838.1:c.*157-181_*157-170del ENSP00000507652.1:n.*157-181_*157-170del
ENST00000683578.1:c.498+118_498+129del ENSP00000507430.1:n.498+118_498+129del
ENST00000683661.1:n.2033+118_2033+129del
ENST00000684324.1:c.498+118_498+129del ENSP00000507937.1:n.498+118_498+129del
ENST00000684545.1:c.498+118_498+129del ENSP00000506733.1:n.498+118_498+129del
ENST00000684714.1:c.498+118_498+129del ENSP00000506861.1:n.498+118_498+129del
ENST00000375679.9:c.498+118_498+129del MANE Select ENSP00000364831.5:n.498+118_498+129del
ENST00000375679.8:c.498+118_498+129del ENSP00000364831.4:n.498+118_498+129del
ENST00000619181.4:c.498+118_498+129del ENSP00000483866.1:n.498+118_498+129del
NM_000085.4:c.498+118_498+129del NP_000076.2:n.498+118_498+129del
XM_011540619.1:c.339+118_339+129del XP_011538921.1:n.339+118_339+129del
XM_011540620.1:c.498+118_498+129del XP_011538922.1:n.498+118_498+129del
NM_000085.5:c.498+118_498+129del MANE Select NP_000076.2:n.498+118_498+129del