Canonical Allele Identifier: CA890090683

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1189352163
• gnomAD v3: 1-16048758-CTT-C
• gnomAD v4: 1-16048758-CTT-C
• MyVariant Identifiers: chr1:g.16375254_16375255del (hg19) ; chr1:g.16048759_16048760del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048759_16048760del , CM000663.2:g.16048759_16048760del	GRCh38
NC_000001.10:g.16375254_16375255del , CM000663.1:g.16375254_16375255del	GRCh37
NC_000001.9:g.16247841_16247842del	NCBI36
NG_013079.1:g.10008_10009del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.655+177_655+178del	ENSP00000507062.1:n.655+177_655+178del
ENST00000682793.1:c.655+177_655+178del	ENSP00000506910.1:n.655+177_655+178del
ENST00000682838.1:c.*313+177_*313+178del	ENSP00000507652.1:n.*313+177_*313+178del
ENST00000683578.1:c.655+177_655+178del	ENSP00000507430.1:n.655+177_655+178del
ENST00000683661.1:n.2190+177_2190+178del
ENST00000684324.1:c.655+177_655+178del	ENSP00000507937.1:n.655+177_655+178del
ENST00000684545.1:c.655+177_655+178del	ENSP00000506733.1:n.655+177_655+178del
ENST00000684714.1:c.655+177_655+178del	ENSP00000506861.1:n.655+177_655+178del
ENST00000684731.1:n.116+177_116+178del
ENST00000375679.9:c.655+177_655+178del MANE Select	ENSP00000364831.5:n.655+177_655+178del
ENST00000375679.8:c.655+177_655+178del	ENSP00000364831.4:n.655+177_655+178del
ENST00000619181.4:c.587+245_587+246del	ENSP00000483866.1:n.587+245_587+246del
NM_000085.4:c.655+177_655+178del	NP_000076.2:n.655+177_655+178del
XM_011540619.1:c.496+177_496+178del	XP_011538921.1:n.496+177_496+178del
XM_011540620.1:c.655+177_655+178del	XP_011538922.1:n.655+177_655+178del
XM_011540621.1:c.-269_-268del	XP_011538923.1:n.-269_-268del
NM_000085.5:c.655+177_655+178del MANE Select	NP_000076.2:n.655+177_655+178del