Canonical Allele Identifier: CA2693737107

Gene: CLCN5

Linked Data

• gnomAD v4: X-50086685-C-CTGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086687_50086690dup , CM000685.2:g.50086687_50086690dup	GRCh38
NC_000023.10:g.49851344_49851347dup , CM000685.1:g.49851344_49851347dup	GRCh37
NC_000023.9:g.49738084_49738087dup	NCBI36
NG_007159.3:g.169072_169075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1374_1377dup MANE Select	ENSP00000365259.3:p.Asn460ValfsTer2
ENST00000642383.1:c.624_627dup	ENSP00000496353.1:p.Asn210ValfsTer2
ENST00000642885.1:c.1164_1167dup	ENSP00000496632.1:p.Asn390ValfsTer2
ENST00000643129.1:c.1661_1664dup
ENST00000646398.1:c.*549_*552dup	ENSP00000495122.1:n.*549_*552dup
ENST00000307367.2:c.1164_1167dup	ENSP00000304257.2:p.Asn390ValfsTer2
ENST00000376088.7:c.1374_1377dup	ENSP00000365256.3:p.Asn460ValfsTer2
ENST00000376091.7:c.1374_1377dup	ENSP00000365259.3:p.Asn460ValfsTer2
ENST00000376108.7:c.1164_1167dup	ENSP00000365276.3:p.Asn390ValfsTer2
NM_000084.4:c.1164_1167dup	NP_000075.1:p.Asn390ValfsTer2
NM_001127898.3:c.1374_1377dup	NP_001121370.1:p.Asn460ValfsTer2
NM_001127899.3:c.1374_1377dup	NP_001121371.1:p.Asn460ValfsTer2
NM_001282163.1:c.1224_1227dup	NP_001269092.1:p.Asn410ValfsTer2
XM_011543888.1:c.1374_1377dup	XP_011542190.1:p.Asn460ValfsTer2
XM_011543889.1:c.1164_1167dup	XP_011542191.1:p.Asn390ValfsTer2
XM_017029257.1:c.1386_1389dup	XP_016884746.1:p.Asn464ValfsTer2
XM_017029258.1:c.1386_1389dup	XP_016884747.1:p.Asn464ValfsTer2
NM_001127898.4:c.1374_1377dup MANE Select	NP_001121370.1:p.Asn460ValfsTer2
NM_000084.5:c.1164_1167dup	NP_000075.1:p.Asn390ValfsTer2
NM_001127899.4:c.1374_1377dup	NP_001121371.1:p.Asn460ValfsTer2
NM_001282163.2:c.1224_1227dup	NP_001269092.1:p.Asn410ValfsTer2