Canonical Allele Identifier: CA1748881911

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321847_143321856delinsAGGTAGGCCT , CM000669.2:g.143321847_143321856delinsAGGTAGGCCT	GRCh38
NC_000007.13:g.143018940_143018949delinsAGGTAGGCCT , CM000669.1:g.143018940_143018949delinsAGGTAGGCCT	GRCh37
NC_000007.12:g.142729062_142729071delinsAGGTAGGCCT	NCBI36
NG_009815.1:g.10722_10731delinsAGGTAGGCCT
NG_009815.2:g.10722_10731delinsAGGTAGGCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.695_696+8delinsAGGTAGGCCT
ENST00000343257.7:c.695_696+8delinsAGGTAGGCCT
ENST00000432192.6:c.463_464+8delinsAGGTAGGCCT
ENST00000455478.6:c.149_150+8delinsAGGTAGGCCT
ENST00000650516.1:c.695_696+8delinsAGGTAGGCCT
ENST00000343257.6:c.695_696+8delinsAGGTAGGCCT
ENST00000432192.5:c.153_154+8delinsAGGTAGGCCT
ENST00000455478.5:c.153_154+8delinsAGGTAGGCCT
ENST00000495612.1:n.153_154+8delinsAGGTAGGCCT
NM_000083.2:c.695_696+8delinsAGGTAGGCCT
NR_046453.1:n.782_783+8delinsAGGTAGGCCT
XM_011515781.1:c.695_696+8delinsAGGTAGGCCT
XM_017011739.1:c.402_403+8delinsAGGTAGGCCT
XM_017011740.1:c.402_403+8delinsAGGTAGGCCT
NM_000083.3:c.695_696+8delinsAGGTAGGCCT
NR_046453.2:n.797_798+8delinsAGGTAGGCCT