Canonical Allele Identifier: CA1108128648

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803101323
• gnomAD v3: 7-143342287-ACTGAAAGT-A
• gnomAD v4: 7-143342287-ACTGAAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342288_143342295del , CM000669.2:g.143342288_143342295del	GRCh38
NC_000007.13:g.143039381_143039388del , CM000669.1:g.143039381_143039388del	GRCh37
NC_000007.12:g.142749503_142749510del	NCBI36
NG_009815.1:g.31163_31170del
NG_009815.2:g.31163_31170del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-84_1797-77del	ENSP00000498052.2:n.1797-84_1797-77del
ENST00000343257.7:c.1797-84_1797-77del MANE Select	ENSP00000339867.2:n.1797-84_1797-77del
ENST00000432192.6:c.1621-84_1621-77del
ENST00000343257.6:c.1797-84_1797-77del	ENSP00000339867.2:n.1797-84_1797-77del
NM_000083.2:c.1797-84_1797-77del	NP_000074.2:n.1797-84_1797-77del
NR_046453.1:n.1737-84_1737-77del
XM_011515781.1:c.1821-84_1821-77del	XP_011514083.1:n.1821-84_1821-77del
XM_011515782.1:c.543-84_543-77del	XP_011514084.1:n.543-84_543-77del
XM_011515782.2:c.543-84_543-77del	XP_011514084.1:n.543-84_543-77del
XM_017011739.1:c.1371-84_1371-77del	XP_016867228.1:n.1371-84_1371-77del
XM_017011740.1:c.1347-84_1347-77del	XP_016867229.1:n.1347-84_1347-77del
NM_000083.3:c.1797-84_1797-77del MANE Select	NP_000074.3:n.1797-84_1797-77del
NR_046453.2:n.1752-84_1752-77del