Canonical Allele Identifier: CA2685379289

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143331160-ACTGCCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331163_143331170del , CM000669.2:g.143331163_143331170del	GRCh38
NC_000007.13:g.143028256_143028263del , CM000669.1:g.143028256_143028263del	GRCh37
NC_000007.12:g.142738378_142738385del	NCBI36
NG_009815.1:g.20038_20045del
NG_009815.2:g.20038_20045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-69_980-62del	ENSP00000498052.2:n.980-69_980-62del
ENST00000343257.7:c.980-69_980-62del MANE Select	ENSP00000339867.2:n.980-69_980-62del
ENST00000432192.6:c.804-69_804-62del
ENST00000343257.6:c.980-69_980-62del	ENSP00000339867.2:n.980-69_980-62del
NM_000083.2:c.980-69_980-62del	NP_000074.2:n.980-69_980-62del
NR_046453.1:n.1070-69_1070-62del
XM_011515781.1:c.980-69_980-62del	XP_011514083.1:n.980-69_980-62del
XM_017011739.1:c.530-69_530-62del	XP_016867228.1:n.530-69_530-62del
XM_017011740.1:c.530-69_530-62del	XP_016867229.1:n.530-69_530-62del
NM_000083.3:c.980-69_980-62del MANE Select	NP_000074.3:n.980-69_980-62del
NR_046453.2:n.1085-69_1085-62del