Canonical Allele Identifier: CA2643564977

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055511-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055512_16055513del , CM000663.2:g.16055512_16055513del	GRCh38
NC_000001.10:g.16382007_16382008del , CM000663.1:g.16382007_16382008del	GRCh37
NC_000001.9:g.16254594_16254595del	NCBI36
NG_013079.1:g.16761_16762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1834_1835del	ENSP00000507062.1:p.Pro612TrpfsTer?
ENST00000682793.1:c.1834_1835del	ENSP00000506910.1:p.Pro612TrpfsTer?
ENST00000682838.1:c.*1576_*1577del	ENSP00000507652.1:n.*1576_*1577del
ENST00000683578.1:c.1834_1835del	ENSP00000507430.1:p.Pro612TrpfsTer30
ENST00000683606.1:n.1440_1441del
ENST00000683661.1:n.3369_3370del
ENST00000684324.1:c.1834_1835del	ENSP00000507937.1:p.Pro612TrpfsTer?
ENST00000684545.1:c.1834_1835del	ENSP00000506733.1:p.Pro612TrpfsTer?
ENST00000684624.1:n.1211_1212del
ENST00000684714.1:c.*54_*55del	ENSP00000506861.1:n.*54_*55del
ENST00000684731.1:n.1161_1162del
ENST00000375679.9:c.1834_1835del MANE Select	ENSP00000364831.5:p.Pro612TrpfsTer?
ENST00000375667.7:c.1327_1328del	ENSP00000364819.3:p.Pro443TrpfsTer30
ENST00000375679.8:c.1834_1835del	ENSP00000364831.4:p.Pro612TrpfsTer?
ENST00000431772.1:c.301_302del	ENSP00000389344.1:p.Pro101TrpfsTer30
ENST00000619181.4:c.1294-1675_1294-1674del	ENSP00000483866.1:n.1294-1675_1294-1674del
NM_000085.4:c.1834_1835del	NP_000076.2:p.Pro612TrpfsTer?
NM_001165945.2:c.1327_1328del	NP_001159417.2:p.Pro443TrpfsTer30
XM_011540619.1:c.1675_1676del	XP_011538921.1:p.Pro559TrpfsTer?
XM_011540621.1:c.1183_1184del	XP_011538923.1:p.Pro395TrpfsTer?
NM_000085.5:c.1834_1835del MANE Select	NP_000076.2:p.Pro612TrpfsTer?