Canonical Allele Identifier: CA2643563781

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16048743-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048749_16048750dup , CM000663.2:g.16048749_16048750dup	GRCh38
NC_000001.10:g.16375244_16375245dup , CM000663.1:g.16375244_16375245dup	GRCh37
NC_000001.9:g.16247831_16247832dup	NCBI36
NG_013079.1:g.9998_9999dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.655+167_655+168dup	ENSP00000507062.1:n.655+167_655+168dup
ENST00000682793.1:c.655+167_655+168dup	ENSP00000506910.1:n.655+167_655+168dup
ENST00000682838.1:c.*313+167_*313+168dup	ENSP00000507652.1:n.*313+167_*313+168dup
ENST00000683578.1:c.655+167_655+168dup	ENSP00000507430.1:n.655+167_655+168dup
ENST00000683661.1:n.2190+167_2190+168dup
ENST00000684324.1:c.655+167_655+168dup	ENSP00000507937.1:n.655+167_655+168dup
ENST00000684545.1:c.655+167_655+168dup	ENSP00000506733.1:n.655+167_655+168dup
ENST00000684714.1:c.655+167_655+168dup	ENSP00000506861.1:n.655+167_655+168dup
ENST00000684731.1:n.116+167_116+168dup
ENST00000375679.9:c.655+167_655+168dup MANE Select	ENSP00000364831.5:n.655+167_655+168dup
ENST00000375679.8:c.655+167_655+168dup	ENSP00000364831.4:n.655+167_655+168dup
ENST00000619181.4:c.587+235_587+236dup	ENSP00000483866.1:n.587+235_587+236dup
NM_000085.4:c.655+167_655+168dup	NP_000076.2:n.655+167_655+168dup
XM_011540619.1:c.496+167_496+168dup	XP_011538921.1:n.496+167_496+168dup
XM_011540620.1:c.655+167_655+168dup	XP_011538922.1:n.655+167_655+168dup
XM_011540621.1:c.-279_-278dup	XP_011538923.1:n.-279_-278dup
NM_000085.5:c.655+167_655+168dup MANE Select	NP_000076.2:n.655+167_655+168dup