Canonical Allele Identifier: CA2685383275

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351935-CGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351941_143351943del , CM000669.2:g.143351941_143351943del	GRCh38
NC_000007.13:g.143049034_143049036del , CM000669.1:g.143049034_143049036del	GRCh37
NC_000007.12:g.142759156_142759158del	NCBI36
NG_009815.1:g.40816_40818del
NG_009815.2:g.40816_40818del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2943_2945del	ENSP00000498052.2:p.Glu981del
ENST00000343257.7:c.2943_2945del MANE Select	ENSP00000339867.2:p.Glu981del
ENST00000343257.6:c.2943_2945del	ENSP00000339867.2:p.Glu981del
NM_000083.2:c.2943_2945del	NP_000074.2:p.Glu981del
NR_046453.1:n.2883_2885del
XM_011515781.1:c.2967_2969del	XP_011514083.1:p.Glu989del
XM_011515782.1:c.1689_1691del	XP_011514084.1:p.Glu563del
XM_011515782.2:c.1689_1691del	XP_011514084.1:p.Glu563del
XM_017011739.1:c.2517_2519del	XP_016867228.1:p.Glu839del
XM_017011740.1:c.2493_2495del	XP_016867229.1:p.Glu831del
NM_000083.3:c.2943_2945del MANE Select	NP_000074.3:p.Glu981del
NR_046453.2:n.2898_2900del