Canonical Allele Identifier: CA2579050688

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143331143-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331145del , CM000669.2:g.143331145del	GRCh38
NC_000007.13:g.143028238del , CM000669.1:g.143028238del	GRCh37
NC_000007.12:g.142738360del	NCBI36
NG_009815.1:g.20020del
NG_009815.2:g.20020del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-87del	ENSP00000498052.2:n.980-87del
ENST00000343257.7:c.980-87del MANE Select	ENSP00000339867.2:n.980-87del
ENST00000432192.6:c.804-87del
ENST00000343257.6:c.980-87del	ENSP00000339867.2:n.980-87del
NM_000083.2:c.980-87del	NP_000074.2:n.980-87del
NR_046453.1:n.1070-87del
XM_011515781.1:c.980-87del	XP_011514083.1:n.980-87del
XM_017011739.1:c.530-87del	XP_016867228.1:n.530-87del
XM_017011740.1:c.530-87del	XP_016867229.1:n.530-87del
NM_000083.3:c.980-87del MANE Select	NP_000074.3:n.980-87del
NR_046453.2:n.1085-87del