Allele Registry

Canonical Allele Identifier: CA341543

Gene: CLCN1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.143346624del

GRCh37 chr7:g.143043717del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000020105

ClinVar Variation:

21042

dbSNP:

80356707

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143346624del , CM000669.2:g.143346624del	GRCh38
NC_000007.13:g.143043717del , CM000669.1:g.143043717del	GRCh37
NC_000007.12:g.142753839del	NCBI36
NG_009815.1:g.35499del
NG_009815.2:g.35499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2330del	ENSP00000498052.2:p.Gly777AlafsTer17
ENST00000343257.7:c.2330del MANE Select	ENSP00000339867.2:p.Gly777AlafsTer17
ENST00000432192.6:c.2154del
ENST00000343257.6:c.2330del	ENSP00000339867.2:p.Gly777AlafsTer17
NM_000083.2:c.2330del	NP_000074.2:p.Gly777AlafsTer17
NR_046453.1:n.2270del
XM_011515781.1:c.2354del	XP_011514083.1:p.Gly785AlafsTer17
XM_011515782.1:c.1076del	XP_011514084.1:p.Gly359AlafsTer17
XM_011515782.2:c.1076del	XP_011514084.1:p.Gly359AlafsTer17
XM_017011739.1:c.1904del	XP_016867228.1:p.Gly635AlafsTer17
XM_017011740.1:c.1880del	XP_016867229.1:p.Gly627AlafsTer17
NM_000083.3:c.2330del MANE Select	NP_000074.3:p.Gly777AlafsTer17
NR_046453.2:n.2285del

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