Canonical Allele Identifier: CA10413868

Gene: CLCN5

Linked Data

• dbSNP Id: rs782203077
• ExAC: X:49851359 C / CGGT
• MyVariant Identifiers: chrX:g.49851359_49851360insGGT (hg19) ; chrX:g.50086702_50086703insGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086702_50086703insGGT , CM000685.2:g.50086702_50086703insGGT	GRCh38
NC_000023.10:g.49851359_49851360insGGT , CM000685.1:g.49851359_49851360insGGT	GRCh37
NC_000023.9:g.49738099_49738100insGGT	NCBI36
NG_007159.3:g.169087_169088insGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1389_1390insGGT MANE Select	ENSP00000365259.3:p.Gly463_Leu464insGly
ENST00000642383.1:c.639_640insGGT	ENSP00000496353.1:p.Gly213_Leu214insGly
ENST00000642885.1:c.1179_1180insGGT	ENSP00000496632.1:p.Gly393_Leu394insGly
ENST00000643129.1:c.1676_1677insGGT
ENST00000646398.1:c.*564_*565insGGT	ENSP00000495122.1:n.*564_*565insGGT
ENST00000307367.2:c.1179_1180insGGT	ENSP00000304257.2:p.Gly393_Leu394insGly
ENST00000376088.7:c.1389_1390insGGT	ENSP00000365256.3:p.Gly463_Leu464insGly
ENST00000376091.7:c.1389_1390insGGT	ENSP00000365259.3:p.Gly463_Leu464insGly
ENST00000376108.7:c.1179_1180insGGT	ENSP00000365276.3:p.Gly393_Leu394insGly
NM_000084.4:c.1179_1180insGGT	NP_000075.1:p.Gly393_Leu394insGly
NM_001127898.3:c.1389_1390insGGT	NP_001121370.1:p.Gly463_Leu464insGly
NM_001127899.3:c.1389_1390insGGT	NP_001121371.1:p.Gly463_Leu464insGly
NM_001282163.1:c.1239_1240insGGT	NP_001269092.1:p.Gly413_Leu414insGly
XM_011543888.1:c.1389_1390insGGT	XP_011542190.1:p.Gly463_Leu464insGly
XM_011543889.1:c.1179_1180insGGT	XP_011542191.1:p.Gly393_Leu394insGly
XM_017029257.1:c.1401_1402insGGT	XP_016884746.1:p.Gly467_Leu468insGly
XM_017029258.1:c.1401_1402insGGT	XP_016884747.1:p.Gly467_Leu468insGly
NM_001127898.4:c.1389_1390insGGT MANE Select	NP_001121370.1:p.Gly463_Leu464insGly
NM_000084.5:c.1179_1180insGGT	NP_000075.1:p.Gly393_Leu394insGly
NM_001127899.4:c.1389_1390insGGT	NP_001121371.1:p.Gly463_Leu464insGly
NM_001282163.2:c.1239_1240insGGT	NP_001269092.1:p.Gly413_Leu414insGly