Canonical Allele Identifier: CA2643562530

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16048147-G-GCCCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048147_16048148insCCCAA , CM000663.2:g.16048147_16048148insCCCAA	GRCh38
NC_000001.10:g.16374642_16374643insCCCAA , CM000663.1:g.16374642_16374643insCCCAA	GRCh37
NC_000001.9:g.16247229_16247230insCCCAA	NCBI36
NG_013079.1:g.9396_9397insCCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.498+103_498+104insCCCAA	ENSP00000507062.1:n.498+103_498+104insCCCAA
ENST00000682793.1:c.498+103_498+104insCCCAA	ENSP00000506910.1:n.498+103_498+104insCCCAA
ENST00000682838.1:c.*157-196_*157-195insCCCAA	ENSP00000507652.1:n.*157-196_*157-195insCCCAA
ENST00000683578.1:c.498+103_498+104insCCCAA	ENSP00000507430.1:n.498+103_498+104insCCCAA
ENST00000683661.1:n.2033+103_2033+104insCCCAA
ENST00000684324.1:c.498+103_498+104insCCCAA	ENSP00000507937.1:n.498+103_498+104insCCCAA
ENST00000684545.1:c.498+103_498+104insCCCAA	ENSP00000506733.1:n.498+103_498+104insCCCAA
ENST00000684714.1:c.498+103_498+104insCCCAA	ENSP00000506861.1:n.498+103_498+104insCCCAA
ENST00000375679.9:c.498+103_498+104insCCCAA MANE Select	ENSP00000364831.5:n.498+103_498+104insCCCAA
ENST00000375679.8:c.498+103_498+104insCCCAA	ENSP00000364831.4:n.498+103_498+104insCCCAA
ENST00000619181.4:c.498+103_498+104insCCCAA	ENSP00000483866.1:n.498+103_498+104insCCCAA
NM_000085.4:c.498+103_498+104insCCCAA	NP_000076.2:n.498+103_498+104insCCCAA
XM_011540619.1:c.339+103_339+104insCCCAA	XP_011538921.1:n.339+103_339+104insCCCAA
XM_011540620.1:c.498+103_498+104insCCCAA	XP_011538922.1:n.498+103_498+104insCCCAA
NM_000085.5:c.498+103_498+104insCCCAA MANE Select	NP_000076.2:n.498+103_498+104insCCCAA