Canonical Allele Identifier: CA2740094896

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2939187
• ClinVar RCV Id: RCV003791913

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321794del , CM000669.2:g.143321794del	GRCh38
NC_000007.13:g.143018887del , CM000669.1:g.143018887del	GRCh37
NC_000007.12:g.142729009del	NCBI36
NG_009815.1:g.10669del
NG_009815.2:g.10669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.642del	ENSP00000498052.2:p.Lys215ArgfsTer5
ENST00000343257.7:c.642del MANE Select	ENSP00000339867.2:p.Lys215ArgfsTer5
ENST00000432192.6:c.410del
ENST00000455478.6:c.96del	ENSP00000400027.2:p.Lys33ArgfsTer5
ENST00000650516.1:c.642del	ENSP00000498052.1:p.Lys215ArgfsTer5
ENST00000343257.6:c.642del	ENSP00000339867.2:p.Lys215ArgfsTer5
ENST00000432192.5:c.100del
ENST00000455478.5:c.100del
ENST00000495612.1:n.100del
NM_000083.2:c.642del	NP_000074.2:p.Lys215ArgfsTer5
NR_046453.1:n.729del
XM_011515781.1:c.642del	XP_011514083.1:p.Lys215ArgfsTer5
XM_017011739.1:c.349del	XP_016867228.1:p.Gln117LysfsTer?
XM_017011740.1:c.349del	XP_016867229.1:p.Gln117LysfsTer?
NM_000083.3:c.642del MANE Select	NP_000074.3:p.Lys215ArgfsTer5
NR_046453.2:n.744del