Canonical Allele Identifier: CA2742606415
Gene: CLCNKB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16055540_16055541insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT , CM000663.2:g.16055540_16055541insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT GRCh38
NC_000001.10:g.16382035_16382036insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT , CM000663.1:g.16382035_16382036insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT GRCh37
NC_000001.9:g.16254622_16254623insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT NCBI36
NG_013079.1:g.16789_16790insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682338.1:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000507062.1:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000682793.1:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000506910.1:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000682838.1:c.*1587+17_*1587+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000507652.1:n.*1587+17_*1587+18insAACAGTTCTTGGCTAAGTAGG...
ENST00000683578.1:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000507430.1:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000683606.1:n.1451+17_1451+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT
ENST00000683661.1:n.3380+17_3380+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT
ENST00000684324.1:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000507937.1:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000684545.1:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000506733.1:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000684624.1:n.1222+17_1222+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT
ENST00000684714.1:c.*65+17_*65+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000506861.1:n.*65+17_*65+18insAACAGTTCTTGGCTAAGTAGGTGCT...
ENST00000684731.1:n.1172+17_1172+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT
ENST00000375679.9:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT MANE Select ENSP00000364831.5:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000375667.7:c.1338+17_1338+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000364819.3:n.1338+17_1338+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000375679.8:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000364831.4:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTG...
ENST00000431772.1:c.312+17_312+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000389344.1:n.312+17_312+18insAACAGTTCTTGGCTAAGTAGGTGCT...
ENST00000619181.4:c.1294-1647_1294-1646insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT ENSP00000483866.1:n.1294-1647_1294-1646insAACAGTTCTTGGCTAAGTA...
NM_000085.4:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT NP_000076.2:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGT...
NM_001165945.2:c.1338+17_1338+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT NP_001159417.2:n.1338+17_1338+18insAACAGTTCTTGGCTAAGTAGGTGCTA...
XM_011540619.1:c.1686+17_1686+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT XP_011538921.1:n.1686+17_1686+18insAACAGTTCTTGGCTAAGTAGGTGCTA...
XM_011540621.1:c.1194+17_1194+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT XP_011538923.1:n.1194+17_1194+18insAACAGTTCTTGGCTAAGTAGGTGCTA...
NM_000085.5:c.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGTAAATGTGAGTCCCTGTTTCCTCCTAATGTGCCTCCCTCTGGCTGTCTCTCCACTT MANE Select NP_000076.2:n.1845+17_1845+18insAACAGTTCTTGGCTAAGTAGGTGCTAAGT...