Canonical Allele Identifier: CA2715877943

Gene: CLCN1

Linked Data

• dbSNP Id: rs2116852727

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331160del , CM000669.2:g.143331160del	GRCh38
NC_000007.13:g.143028253del , CM000669.1:g.143028253del	GRCh37
NC_000007.12:g.142738375del	NCBI36
NG_009815.1:g.20035del
NG_009815.2:g.20035del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-72del	ENSP00000498052.2:n.980-72del
ENST00000343257.7:c.980-72del MANE Select	ENSP00000339867.2:n.980-72del
ENST00000432192.6:c.804-72del
ENST00000343257.6:c.980-72del	ENSP00000339867.2:n.980-72del
NM_000083.2:c.980-72del	NP_000074.2:n.980-72del
NR_046453.1:n.1070-72del
XM_011515781.1:c.980-72del	XP_011514083.1:n.980-72del
XM_017011739.1:c.530-72del	XP_016867228.1:n.530-72del
XM_017011740.1:c.530-72del	XP_016867229.1:n.530-72del
NM_000083.3:c.980-72del MANE Select	NP_000074.3:n.980-72del
NR_046453.2:n.1085-72del