Canonical Allele Identifier: CA2685380593

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342277-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342279del , CM000669.2:g.143342279del	GRCh38
NC_000007.13:g.143039372del , CM000669.1:g.143039372del	GRCh37
NC_000007.12:g.142749494del	NCBI36
NG_009815.1:g.31154del
NG_009815.2:g.31154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-93del	ENSP00000498052.2:n.1797-93del
ENST00000343257.7:c.1797-93del MANE Select	ENSP00000339867.2:n.1797-93del
ENST00000432192.6:c.1621-93del
ENST00000343257.6:c.1797-93del	ENSP00000339867.2:n.1797-93del
NM_000083.2:c.1797-93del	NP_000074.2:n.1797-93del
NR_046453.1:n.1737-93del
XM_011515781.1:c.1821-93del	XP_011514083.1:n.1821-93del
XM_011515782.1:c.543-93del	XP_011514084.1:n.543-93del
XM_011515782.2:c.543-93del	XP_011514084.1:n.543-93del
XM_017011739.1:c.1371-93del	XP_016867228.1:n.1371-93del
XM_017011740.1:c.1347-93del	XP_016867229.1:n.1347-93del
NM_000083.3:c.1797-93del MANE Select	NP_000074.3:n.1797-93del
NR_046453.2:n.1752-93del