Canonical Allele Identifier: CA2579050561

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321721del , CM000669.2:g.143321721del	GRCh38
NC_000007.13:g.143018814del , CM000669.1:g.143018814del	GRCh37
NC_000007.12:g.142728936del	NCBI36
NG_009815.1:g.10596del
NG_009815.2:g.10596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.569del	ENSP00000498052.2:p.Gly190GlufsTer5
ENST00000343257.7:c.569del MANE Select	ENSP00000339867.2:p.Gly190GlufsTer5
ENST00000432192.6:c.337del
ENST00000455478.6:c.23del	ENSP00000400027.2:p.Gly8GlufsTer5
ENST00000650516.1:c.569del	ENSP00000498052.1:p.Gly190GlufsTer5
ENST00000343257.6:c.569del	ENSP00000339867.2:p.Gly190GlufsTer5
ENST00000432192.5:c.27del
ENST00000455478.5:c.27del
ENST00000495612.1:n.27del
NM_000083.2:c.569del	NP_000074.2:p.Gly190GlufsTer5
NR_046453.1:n.656del
XM_011515781.1:c.569del	XP_011514083.1:p.Gly190GlufsTer5
XM_017011739.1:c.276del	XP_016867228.1:p.Trp92Ter
XM_017011740.1:c.276del	XP_016867229.1:p.Trp92Ter
NM_000083.3:c.569del MANE Select	NP_000074.3:p.Gly190GlufsTer5
NR_046453.2:n.671del