Canonical Allele Identifier: CA1748888207

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321448_143321449delinsCT , CM000669.2:g.143321448_143321449delinsCT	GRCh38
NC_000007.13:g.143018541_143018542delinsCT , CM000669.1:g.143018541_143018542delinsCT	GRCh37
NC_000007.12:g.142728663_142728664delinsCT	NCBI36
NG_009815.1:g.10323_10324delinsCT
NG_009815.2:g.10323_10324delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.517_518delinsCT	ENSP00000498052.2:p.Leu173=
ENST00000343257.7:c.517_518delinsCT MANE Select	ENSP00000339867.2:p.Leu173=
ENST00000432192.6:c.285_286delinsCT
ENST00000650516.1:c.517_518delinsCT	ENSP00000498052.1:p.Leu173=
ENST00000343257.6:c.517_518delinsCT	ENSP00000339867.2:p.Leu173=
NM_000083.2:c.517_518delinsCT	NP_000074.2:p.Leu173=
NR_046453.1:n.604_605delinsCT
XM_011515781.1:c.517_518delinsCT	XP_011514083.1:p.Leu173=
XM_017011739.1:c.224_225delinsCT	XP_016867228.1:p.Pro75=
XM_017011740.1:c.224_225delinsCT	XP_016867229.1:p.Pro75=
NM_000083.3:c.517_518delinsCT MANE Select	NP_000074.3:p.Leu173=
NR_046453.2:n.619_620delinsCT