Canonical Allele Identifier: CA2586966103

Gene: CLCNKB

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048504_16048581del , CM000663.2:g.16048504_16048581del	GRCh38
NC_000001.10:g.16374999_16375076del , CM000663.1:g.16374999_16375076del	GRCh37
NC_000001.9:g.16247586_16247663del	NCBI36
NG_013079.1:g.9753_9830del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682338.1:c.577_654del	ENSP00000507062.1:p.Asn193_Ser218del
ENST00000682793.1:c.577_654del	ENSP00000506910.1:p.Asn193_Ser218del
ENST00000682838.1:c.*235_*312del	ENSP00000507652.1:n.*235_*312del
ENST00000683578.1:c.577_654del	ENSP00000507430.1:p.Asn193_Ser218del
ENST00000683661.1:n.2112_2189del
ENST00000684324.1:c.577_654del	ENSP00000507937.1:p.Asn193_Ser218del
ENST00000684545.1:c.577_654del	ENSP00000506733.1:p.Asn193_Ser218del
ENST00000684714.1:c.577_654del	ENSP00000506861.1:p.Asn193_Ser218del
ENST00000684731.1:n.38_115del
ENST00000375679.9:c.577_654del MANE Select	ENSP00000364831.5:p.Asn193_Ser218del
ENST00000375679.8:c.577_654del	ENSP00000364831.4:p.Asn193_Ser218del
ENST00000619181.4:c.577_587+67del
NM_000085.4:c.577_654del	NP_000076.2:p.Asn193_Ser218del
XM_011540619.1:c.418_495del	XP_011538921.1:p.Asn140_Ser165del
XM_011540620.1:c.577_654del	XP_011538922.1:p.Asn193_Ser218del
NM_000085.5:c.577_654del MANE Select	NP_000076.2:p.Asn193_Ser218del