Canonical Allele Identifier: CA1748881428

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321548_143321549delinsTC , CM000669.2:g.143321548_143321549delinsTC	GRCh38
NC_000007.13:g.143018641_143018642delinsTC , CM000669.1:g.143018641_143018642delinsTC	GRCh37
NC_000007.12:g.142728763_142728764delinsTC	NCBI36
NG_009815.1:g.10423_10424delinsTC
NG_009815.2:g.10423_10424delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+55_562+56delinsTC	ENSP00000498052.2:n.562+55_562+56delinsTC
ENST00000343257.7:c.562+55_562+56delinsTC MANE Select	ENSP00000339867.2:n.562+55_562+56delinsTC
ENST00000432192.6:c.330+55_330+56delinsTC
ENST00000455478.6:c.16+55_16+56delinsTC	ENSP00000400027.2:n.16+55_16+56delinsTC
ENST00000650516.1:c.562+55_562+56delinsTC	ENSP00000498052.1:n.562+55_562+56delinsTC
ENST00000343257.6:c.562+55_562+56delinsTC	ENSP00000339867.2:n.562+55_562+56delinsTC
ENST00000432192.5:c.20+55_20+56delinsTC
ENST00000455478.5:c.20+55_20+56delinsTC
ENST00000495612.1:n.20+55_20+56delinsTC
NM_000083.2:c.562+55_562+56delinsTC	NP_000074.2:n.562+55_562+56delinsTC
NR_046453.1:n.649+55_649+56delinsTC
XM_011515781.1:c.562+55_562+56delinsTC	XP_011514083.1:n.562+55_562+56delinsTC
XM_017011739.1:c.269+55_269+56delinsTC	XP_016867228.1:n.269+55_269+56delinsTC
XM_017011740.1:c.269+55_269+56delinsTC	XP_016867229.1:n.269+55_269+56delinsTC
NM_000083.3:c.562+55_562+56delinsTC MANE Select	NP_000074.3:n.562+55_562+56delinsTC
NR_046453.2:n.664+55_664+56delinsTC