Canonical Allele Identifier: CA913189750

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 631998
• ClinVar RCV Id: RCV000778824
• dbSNP Id: rs1563084796

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342144_143342148del , CM000669.2:g.143342144_143342148del	GRCh38
NC_000007.13:g.143039237_143039241del , CM000669.1:g.143039237_143039241del	GRCh37
NC_000007.12:g.142749359_142749363del	NCBI36
NG_009815.1:g.31019_31023del
NG_009815.2:g.31019_31023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1796+2_1796+6del
ENST00000343257.7:c.1796+2_1796+6del
ENST00000432192.6:c.1620+2_1620+6del
ENST00000343257.6:c.1796+2_1796+6del
NM_000083.2:c.1796+2_1796+6del
NR_046453.1:n.1736+2_1736+6del
XM_011515781.1:c.1820+2_1820+6del
XM_011515782.1:c.542+2_542+6del
XM_011515782.2:c.542+2_542+6del
XM_017011739.1:c.1370+2_1370+6del
XM_017011740.1:c.1346+2_1346+6del
NM_000083.3:c.1796+2_1796+6del
NR_046453.2:n.1751+2_1751+6del