Canonical Allele Identifier: CA1748893858

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341792_143341793delinsCT , CM000669.2:g.143341792_143341793delinsCT	GRCh38
NC_000007.13:g.143038885_143038886delinsCT , CM000669.1:g.143038885_143038886delinsCT	GRCh37
NC_000007.12:g.142749007_142749008delinsCT	NCBI36
NG_009815.1:g.30667_30668delinsCT
NG_009815.2:g.30667_30668delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-137_1583-136delinsCT	ENSP00000498052.2:n.1583-137_1583-136delinsCT
ENST00000343257.7:c.1583-137_1583-136delinsCT MANE Select	ENSP00000339867.2:n.1583-137_1583-136delinsCT
ENST00000432192.6:c.1407-137_1407-136delinsCT
ENST00000343257.6:c.1583-137_1583-136delinsCT	ENSP00000339867.2:n.1583-137_1583-136delinsCT
NM_000083.2:c.1583-137_1583-136delinsCT	NP_000074.2:n.1583-137_1583-136delinsCT
NR_046453.1:n.1523-137_1523-136delinsCT
XM_011515781.1:c.1607-137_1607-136delinsCT	XP_011514083.1:n.1607-137_1607-136delinsCT
XM_011515782.1:c.329-137_329-136delinsCT	XP_011514084.1:n.329-137_329-136delinsCT
XM_011515782.2:c.329-137_329-136delinsCT	XP_011514084.1:n.329-137_329-136delinsCT
XM_017011739.1:c.1157-137_1157-136delinsCT	XP_016867228.1:n.1157-137_1157-136delinsCT
XM_017011740.1:c.1133-137_1133-136delinsCT	XP_016867229.1:n.1133-137_1133-136delinsCT
NM_000083.3:c.1583-137_1583-136delinsCT MANE Select	NP_000074.3:n.1583-137_1583-136delinsCT
NR_046453.2:n.1538-137_1538-136delinsCT