Canonical Allele Identifier: CA1748893997

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342138_143342143delinsCTCAGG , CM000669.2:g.143342138_143342143delinsCTCAGG	GRCh38
NC_000007.13:g.143039231_143039236delinsCTCAGG , CM000669.1:g.143039231_143039236delinsCTCAGG	GRCh37
NC_000007.12:g.142749353_142749358delinsCTCAGG	NCBI36
NG_009815.1:g.31013_31018delinsCTCAGG
NG_009815.2:g.31013_31018delinsCTCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1792_1796+1delinsCTCAGG
ENST00000343257.7:c.1792_1796+1delinsCTCAGG
ENST00000432192.6:c.1616_1620+1delinsCTCAGG
ENST00000343257.6:c.1792_1796+1delinsCTCAGG
NM_000083.2:c.1792_1796+1delinsCTCAGG
NR_046453.1:n.1732_1736+1delinsCTCAGG
XM_011515781.1:c.1816_1820+1delinsCTCAGG
XM_011515782.1:c.538_542+1delinsCTCAGG
XM_011515782.2:c.538_542+1delinsCTCAGG
XM_017011739.1:c.1366_1370+1delinsCTCAGG
XM_017011740.1:c.1342_1346+1delinsCTCAGG
NM_000083.3:c.1792_1796+1delinsCTCAGG
NR_046453.2:n.1747_1751+1delinsCTCAGG