Canonical Allele Identifier: CA1748893834

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803081662

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341757_143341759del , CM000669.2:g.143341757_143341759del	GRCh38
NC_000007.13:g.143038850_143038852del , CM000669.1:g.143038850_143038852del	GRCh37
NC_000007.12:g.142748972_142748974del	NCBI36
NG_009815.1:g.30632_30634del
NG_009815.2:g.30632_30634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-172_1583-170del	ENSP00000498052.2:n.1583-172_1583-170del
ENST00000343257.7:c.1583-172_1583-170del MANE Select	ENSP00000339867.2:n.1583-172_1583-170del
ENST00000432192.6:c.1407-172_1407-170del
ENST00000343257.6:c.1583-172_1583-170del	ENSP00000339867.2:n.1583-172_1583-170del
NM_000083.2:c.1583-172_1583-170del	NP_000074.2:n.1583-172_1583-170del
NR_046453.1:n.1523-172_1523-170del
XM_011515781.1:c.1607-172_1607-170del	XP_011514083.1:n.1607-172_1607-170del
XM_011515782.1:c.329-172_329-170del	XP_011514084.1:n.329-172_329-170del
XM_011515782.2:c.329-172_329-170del	XP_011514084.1:n.329-172_329-170del
XM_017011739.1:c.1157-172_1157-170del	XP_016867228.1:n.1157-172_1157-170del
XM_017011740.1:c.1133-172_1133-170del	XP_016867229.1:n.1133-172_1133-170del
NM_000083.3:c.1583-172_1583-170del MANE Select	NP_000074.3:n.1583-172_1583-170del
NR_046453.2:n.1538-172_1538-170del