Canonical Allele Identifier: CA2740094892

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2949449
• ClinVar RCV Id: RCV003804615

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321310_143321395del , CM000669.2:g.143321310_143321395del	GRCh38
NC_000007.13:g.143018403_143018488del , CM000669.1:g.143018403_143018488del	GRCh37
NC_000007.12:g.142728525_142728610del	NCBI36
NG_009815.1:g.10185_10270del
NG_009815.2:g.10185_10270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-55_464del
ENST00000343257.7:c.434-55_464del
ENST00000432192.6:c.202-55_232del
ENST00000650516.1:c.434-55_464del
ENST00000343257.6:c.434-55_464del
NM_000083.2:c.434-55_464del
NR_046453.1:n.521-55_551del
XM_011515781.1:c.434-55_464del
XM_017011739.1:c.141-55_171del
XM_017011740.1:c.141-55_171del
NM_000083.3:c.434-55_464del
NR_046453.2:n.536-55_566del