Canonical Allele Identifier: CA1748898295

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803412723

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351711_143351715del , CM000669.2:g.143351711_143351715del	GRCh38
NC_000007.13:g.143048804_143048808del , CM000669.1:g.143048804_143048808del	GRCh37
NC_000007.12:g.142758926_142758930del	NCBI36
NG_009815.1:g.40586_40590del
NG_009815.2:g.40586_40590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2713_2717del	ENSP00000498052.2:p.Glu905LeufsTer5
ENST00000343257.7:c.2713_2717del MANE Select	ENSP00000339867.2:p.Glu905LeufsTer5
ENST00000432192.6:c.2537_2541del
ENST00000343257.6:c.2713_2717del	ENSP00000339867.2:p.Glu905LeufsTer5
NM_000083.2:c.2713_2717del	NP_000074.2:p.Glu905LeufsTer5
NR_046453.1:n.2653_2657del
XM_011515781.1:c.2737_2741del	XP_011514083.1:p.Glu913LeufsTer5
XM_011515782.1:c.1459_1463del	XP_011514084.1:p.Glu487LeufsTer5
XM_011515782.2:c.1459_1463del	XP_011514084.1:p.Glu487LeufsTer5
XM_017011739.1:c.2287_2291del	XP_016867228.1:p.Glu763LeufsTer5
XM_017011740.1:c.2263_2267del	XP_016867229.1:p.Glu755LeufsTer5
NM_000083.3:c.2713_2717del MANE Select	NP_000074.3:p.Glu905LeufsTer5
NR_046453.2:n.2668_2672del