Canonical Allele Identifier: CA2685380050

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143331426-T-TCCCCCCAGCAA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331426_143331427insCCCCCCAGCAA , CM000669.2:g.143331426_143331427insCCCCCCAGCAA	GRCh38
NC_000007.13:g.143028519_143028520insCCCCCCAGCAA , CM000669.1:g.143028519_143028520insCCCCCCAGCAA	GRCh37
NC_000007.12:g.142738641_142738642insCCCCCCAGCAA	NCBI36
NG_009815.1:g.20301_20302insCCCCCCAGCAA
NG_009815.2:g.20301_20302insCCCCCCAGCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1064+110_1064+111insCCCCCCAGCAA	ENSP00000498052.2:n.1064+110_1064+111insCCCCCCAGCAA
ENST00000343257.7:c.1064+110_1064+111insCCCCCCAGCAA MANE Select	ENSP00000339867.2:n.1064+110_1064+111insCCCCCCAGCAA
ENST00000432192.6:c.888+110_888+111insCCCCCCAGCAA
ENST00000343257.6:c.1064+110_1064+111insCCCCCCAGCAA	ENSP00000339867.2:n.1064+110_1064+111insCCCCCCAGCAA
NM_000083.2:c.1064+110_1064+111insCCCCCCAGCAA	NP_000074.2:n.1064+110_1064+111insCCCCCCAGCAA
NR_046453.1:n.1154+110_1154+111insCCCCCCAGCAA
XM_011515781.1:c.1064+110_1064+111insCCCCCCAGCAA	XP_011514083.1:n.1064+110_1064+111insCCCCCCAGCAA
XM_017011739.1:c.614+110_614+111insCCCCCCAGCAA	XP_016867228.1:n.614+110_614+111insCCCCCCAGCAA
XM_017011740.1:c.614+110_614+111insCCCCCCAGCAA	XP_016867229.1:n.614+110_614+111insCCCCCCAGCAA
NM_000083.3:c.1064+110_1064+111insCCCCCCAGCAA MANE Select	NP_000074.3:n.1064+110_1064+111insCCCCCCAGCAA
NR_046453.2:n.1169+110_1169+111insCCCCCCAGCAA