Canonical Allele Identifier: CA1748893853

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341784_143341785delinsTC , CM000669.2:g.143341784_143341785delinsTC	GRCh38
NC_000007.13:g.143038877_143038878delinsTC , CM000669.1:g.143038877_143038878delinsTC	GRCh37
NC_000007.12:g.142748999_142749000delinsTC	NCBI36
NG_009815.1:g.30659_30660delinsTC
NG_009815.2:g.30659_30660delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-145_1583-144delinsTC	ENSP00000498052.2:n.1583-145_1583-144delinsTC
ENST00000343257.7:c.1583-145_1583-144delinsTC MANE Select	ENSP00000339867.2:n.1583-145_1583-144delinsTC
ENST00000432192.6:c.1407-145_1407-144delinsTC
ENST00000343257.6:c.1583-145_1583-144delinsTC	ENSP00000339867.2:n.1583-145_1583-144delinsTC
NM_000083.2:c.1583-145_1583-144delinsTC	NP_000074.2:n.1583-145_1583-144delinsTC
NR_046453.1:n.1523-145_1523-144delinsTC
XM_011515781.1:c.1607-145_1607-144delinsTC	XP_011514083.1:n.1607-145_1607-144delinsTC
XM_011515782.1:c.329-145_329-144delinsTC	XP_011514084.1:n.329-145_329-144delinsTC
XM_011515782.2:c.329-145_329-144delinsTC	XP_011514084.1:n.329-145_329-144delinsTC
XM_017011739.1:c.1157-145_1157-144delinsTC	XP_016867228.1:n.1157-145_1157-144delinsTC
XM_017011740.1:c.1133-145_1133-144delinsTC	XP_016867229.1:n.1133-145_1133-144delinsTC
NM_000083.3:c.1583-145_1583-144delinsTC MANE Select	NP_000074.3:n.1583-145_1583-144delinsTC
NR_046453.2:n.1538-145_1538-144delinsTC