Canonical Allele Identifier: CA2695233688

Gene: CLCN5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086723del , CM000685.2:g.50086723del	GRCh38
NC_000023.10:g.49851380del , CM000685.1:g.49851380del	GRCh37
NC_000023.9:g.49738120del	NCBI36
NG_007159.3:g.169108del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1410del MANE Select	ENSP00000365259.3:p.Cys471ValfsTer?
ENST00000642383.1:c.660del	ENSP00000496353.1:p.Cys221ValfsTer?
ENST00000642885.1:c.1200del	ENSP00000496632.1:p.Cys401ValfsTer?
ENST00000643129.1:c.1697del
ENST00000646398.1:c.*585del	ENSP00000495122.1:n.*585del
ENST00000307367.2:c.1200del	ENSP00000304257.2:p.Cys401ValfsTer?
ENST00000376088.7:c.1410del	ENSP00000365256.3:p.Cys471ValfsTer?
ENST00000376091.7:c.1410del	ENSP00000365259.3:p.Cys471ValfsTer?
ENST00000376108.7:c.1200del	ENSP00000365276.3:p.Cys401ValfsTer?
NM_000084.4:c.1200del	NP_000075.1:p.Cys401ValfsTer?
NM_001127898.3:c.1410del	NP_001121370.1:p.Cys471ValfsTer?
NM_001127899.3:c.1410del	NP_001121371.1:p.Cys471ValfsTer?
NM_001282163.1:c.1260del	NP_001269092.1:p.Cys421ValfsTer?
XM_011543888.1:c.1410del	XP_011542190.1:p.Cys471ValfsTer?
XM_011543889.1:c.1200del	XP_011542191.1:p.Cys401ValfsTer?
XM_017029257.1:c.1422del	XP_016884746.1:p.Cys475ValfsTer?
XM_017029258.1:c.1422del	XP_016884747.1:p.Cys475ValfsTer?
NM_001127898.4:c.1410del MANE Select	NP_001121370.1:p.Cys471ValfsTer?
NM_000084.5:c.1200del	NP_000075.1:p.Cys401ValfsTer?
NM_001127899.4:c.1410del	NP_001121371.1:p.Cys471ValfsTer?
NM_001282163.2:c.1260del	NP_001269092.1:p.Cys421ValfsTer?