Canonical Allele Identifier: CA2740094941

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351610del , CM000669.2:g.143351610del	GRCh38
NC_000007.13:g.143048703del , CM000669.1:g.143048703del	GRCh37
NC_000007.12:g.142758825del	NCBI36
NG_009815.1:g.40485del
NG_009815.2:g.40485del

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2612del MANE Select	NP_000074.3:p.Glu871GlyfsTer?
ENST00000343257.7:c.2612del MANE Select	ENSP00000339867.2:p.Glu871GlyfsTer?
NM_000083.2:c.2612del	NP_000074.2:p.Glu871GlyfsTer?
NR_046453.1:n.2552del
NR_046453.2:n.2567del
ENST00000343257.6:c.2612del	ENSP00000339867.2:p.Glu871GlyfsTer?
ENST00000432192.6:c.2436del
ENST00000650516.2:c.2612del	ENSP00000498052.2:p.Glu871GlyfsTer?
XM_011515781.1:c.2636del	XP_011514083.1:p.Glu879GlyfsTer?
XM_011515782.1:c.1358del	XP_011514084.1:p.Glu453GlyfsTer?
XM_011515782.2:c.1358del	XP_011514084.1:p.Glu453GlyfsTer?
XM_017011739.1:c.2186del	XP_016867228.1:p.Glu729GlyfsTer?
XM_017011740.1:c.2162del	XP_016867229.1:p.Glu721GlyfsTer?