Canonical Allele Identifier: CA10654911
Gene: CLCNKB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369968
ClinVar RCV Id: RCV000408763
dbSNP Id: rs1057516207

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16051793dup , CM000663.2:g.16051793dup GRCh38
NC_000001.10:g.16378288dup , CM000663.1:g.16378288dup GRCh37
NC_000001.9:g.16250875dup NCBI36
NG_013079.1:g.13042dup

Transcript Alleles

HGVS Amino-acid change
NM_000085.4:c.1381dup VV NP_000076.2:p.Ile461AsnfsTer?
NM_001165945.2:c.874dup VV NP_001159417.2:p.Ile292AsnfsTer?
XM_011540619.1:c.1222dup XP_011538921.1:p.Ile408AsnfsTer?
XM_011540620.1:c.1381dup XP_011538922.1:p.Ile461AsnfsTer?
XM_011540621.1:c.730dup XP_011538923.1:p.Ile244AsnfsTer?
ENST00000375667.7:c.874dup ENSP00000364819.3:p.Ile292AsnfsTer?
ENST00000375679.8:c.1381dup ENSP00000364831.4:p.Ile461AsnfsTer?
ENST00000619181.4:c.1000dup ENSP00000483866.1:p.Ile334AsnfsTer?