Canonical Allele Identifier: CA2685379166

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143331042-CAAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331044_143331047del , CM000669.2:g.143331044_143331047del	GRCh38
NC_000007.13:g.143028137_143028140del , CM000669.1:g.143028137_143028140del	GRCh37
NC_000007.12:g.142738259_142738262del	NCBI36
NG_009815.1:g.19919_19922del
NG_009815.2:g.19919_19922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+147_979+150del	ENSP00000498052.2:n.979+147_979+150del
ENST00000343257.7:c.979+147_979+150del MANE Select	ENSP00000339867.2:n.979+147_979+150del
ENST00000432192.6:c.803+147_803+150del
ENST00000343257.6:c.979+147_979+150del	ENSP00000339867.2:n.979+147_979+150del
NM_000083.2:c.979+147_979+150del	NP_000074.2:n.979+147_979+150del
NR_046453.1:n.1069+147_1069+150del
XM_011515781.1:c.979+147_979+150del	XP_011514083.1:n.979+147_979+150del
XM_017011739.1:c.529+147_529+150del	XP_016867228.1:n.529+147_529+150del
XM_017011740.1:c.529+147_529+150del	XP_016867229.1:n.529+147_529+150del
NM_000083.3:c.979+147_979+150del MANE Select	NP_000074.3:n.979+147_979+150del
NR_046453.2:n.1084+147_1084+150del