Canonical Allele Identifier: CA10413869

Gene: CLCN5

Linked Data

• dbSNP Id: rs782409250
• ExAC: X:49851361 T / TTG
• MyVariant Identifiers: chrX:g.49851361_49851362insTG (hg19) ; chrX:g.50086704_50086705insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086705_50086706insGT , CM000685.2:g.50086705_50086706insGT	GRCh38
NC_000023.10:g.49851362_49851363insGT , CM000685.1:g.49851362_49851363insGT	GRCh37
NC_000023.9:g.49738102_49738103insGT	NCBI36
NG_007159.3:g.169090_169091insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1392_1393insGT MANE Select	ENSP00000365259.3:p.Leu465ValfsTer?
ENST00000642383.1:c.642_643insGT	ENSP00000496353.1:p.Leu215ValfsTer?
ENST00000642885.1:c.1182_1183insGT	ENSP00000496632.1:p.Leu395ValfsTer?
ENST00000643129.1:c.1679_1680insGT
ENST00000646398.1:c.*567_*568insGT	ENSP00000495122.1:n.*567_*568insGT
ENST00000307367.2:c.1182_1183insGT	ENSP00000304257.2:p.Leu395ValfsTer?
ENST00000376088.7:c.1392_1393insGT	ENSP00000365256.3:p.Leu465ValfsTer?
ENST00000376091.7:c.1392_1393insGT	ENSP00000365259.3:p.Leu465ValfsTer?
ENST00000376108.7:c.1182_1183insGT	ENSP00000365276.3:p.Leu395ValfsTer?
NM_000084.4:c.1182_1183insGT	NP_000075.1:p.Leu395ValfsTer?
NM_001127898.3:c.1392_1393insGT	NP_001121370.1:p.Leu465ValfsTer?
NM_001127899.3:c.1392_1393insGT	NP_001121371.1:p.Leu465ValfsTer?
NM_001282163.1:c.1242_1243insGT	NP_001269092.1:p.Leu415ValfsTer?
XM_011543888.1:c.1392_1393insGT	XP_011542190.1:p.Leu465ValfsTer?
XM_011543889.1:c.1182_1183insGT	XP_011542191.1:p.Leu395ValfsTer?
XM_017029257.1:c.1404_1405insGT	XP_016884746.1:p.Leu469ValfsTer?
XM_017029258.1:c.1404_1405insGT	XP_016884747.1:p.Leu469ValfsTer?
NM_001127898.4:c.1392_1393insGT MANE Select	NP_001121370.1:p.Leu465ValfsTer?
NM_000084.5:c.1182_1183insGT	NP_000075.1:p.Leu395ValfsTer?
NM_001127899.4:c.1392_1393insGT	NP_001121371.1:p.Leu465ValfsTer?
NM_001282163.2:c.1242_1243insGT	NP_001269092.1:p.Leu415ValfsTer?