Canonical Allele Identifier: CA1748893899

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341909_143341911delinsGTA , CM000669.2:g.143341909_143341911delinsGTA	GRCh38
NC_000007.13:g.143039002_143039004delinsGTA , CM000669.1:g.143039002_143039004delinsGTA	GRCh37
NC_000007.12:g.142749124_142749126delinsGTA	NCBI36
NG_009815.1:g.30784_30786delinsGTA
NG_009815.2:g.30784_30786delinsGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1583-20_1583-18delinsGTA	ENSP00000498052.2:n.1583-20_1583-18delinsGTA
ENST00000343257.7:c.1583-20_1583-18delinsGTA MANE Select	ENSP00000339867.2:n.1583-20_1583-18delinsGTA
ENST00000432192.6:c.1407-20_1407-18delinsGTA
ENST00000343257.6:c.1583-20_1583-18delinsGTA	ENSP00000339867.2:n.1583-20_1583-18delinsGTA
NM_000083.2:c.1583-20_1583-18delinsGTA	NP_000074.2:n.1583-20_1583-18delinsGTA
NR_046453.1:n.1523-20_1523-18delinsGTA
XM_011515781.1:c.1607-20_1607-18delinsGTA	XP_011514083.1:n.1607-20_1607-18delinsGTA
XM_011515782.1:c.329-20_329-18delinsGTA	XP_011514084.1:n.329-20_329-18delinsGTA
XM_011515782.2:c.329-20_329-18delinsGTA	XP_011514084.1:n.329-20_329-18delinsGTA
XM_017011739.1:c.1157-20_1157-18delinsGTA	XP_016867228.1:n.1157-20_1157-18delinsGTA
XM_017011740.1:c.1133-20_1133-18delinsGTA	XP_016867229.1:n.1133-20_1133-18delinsGTA
NM_000083.3:c.1583-20_1583-18delinsGTA MANE Select	NP_000074.3:n.1583-20_1583-18delinsGTA
NR_046453.2:n.1538-20_1538-18delinsGTA