Canonical Allele Identifier: CA1748881424

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321544_143321548delinsCCTGT , CM000669.2:g.143321544_143321548delinsCCTGT	GRCh38
NC_000007.13:g.143018637_143018641delinsCCTGT , CM000669.1:g.143018637_143018641delinsCCTGT	GRCh37
NC_000007.12:g.142728759_142728763delinsCCTGT	NCBI36
NG_009815.1:g.10419_10423delinsCCTGT
NG_009815.2:g.10419_10423delinsCCTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+51_562+55delinsCCTGT	ENSP00000498052.2:n.562+51_562+55delinsCCTGT
ENST00000343257.7:c.562+51_562+55delinsCCTGT MANE Select	ENSP00000339867.2:n.562+51_562+55delinsCCTGT
ENST00000432192.6:c.330+51_330+55delinsCCTGT
ENST00000455478.6:c.16+51_16+55delinsCCTGT	ENSP00000400027.2:n.16+51_16+55delinsCCTGT
ENST00000650516.1:c.562+51_562+55delinsCCTGT	ENSP00000498052.1:n.562+51_562+55delinsCCTGT
ENST00000343257.6:c.562+51_562+55delinsCCTGT	ENSP00000339867.2:n.562+51_562+55delinsCCTGT
ENST00000432192.5:c.20+51_20+55delinsCCTGT
ENST00000455478.5:c.20+51_20+55delinsCCTGT
ENST00000495612.1:n.20+51_20+55delinsCCTGT
NM_000083.2:c.562+51_562+55delinsCCTGT	NP_000074.2:n.562+51_562+55delinsCCTGT
NR_046453.1:n.649+51_649+55delinsCCTGT
XM_011515781.1:c.562+51_562+55delinsCCTGT	XP_011514083.1:n.562+51_562+55delinsCCTGT
XM_017011739.1:c.269+51_269+55delinsCCTGT	XP_016867228.1:n.269+51_269+55delinsCCTGT
XM_017011740.1:c.269+51_269+55delinsCCTGT	XP_016867229.1:n.269+51_269+55delinsCCTGT
NM_000083.3:c.562+51_562+55delinsCCTGT MANE Select	NP_000074.3:n.562+51_562+55delinsCCTGT
NR_046453.2:n.664+51_664+55delinsCCTGT