Canonical Allele Identifier: CA2835043833

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331021_143331023del , CM000669.2:g.143331021_143331023del	GRCh38
NC_000007.13:g.143028114_143028116del , CM000669.1:g.143028114_143028116del	GRCh37
NC_000007.12:g.142738236_142738238del	NCBI36
NG_009815.1:g.19896_19898del
NG_009815.2:g.19896_19898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.979+124_979+126del	ENSP00000498052.2:n.979+124_979+126del
ENST00000343257.7:c.979+124_979+126del MANE Select	ENSP00000339867.2:n.979+124_979+126del
ENST00000432192.6:c.803+124_803+126del
ENST00000343257.6:c.979+124_979+126del	ENSP00000339867.2:n.979+124_979+126del
NM_000083.2:c.979+124_979+126del	NP_000074.2:n.979+124_979+126del
NR_046453.1:n.1069+124_1069+126del
XM_011515781.1:c.979+124_979+126del	XP_011514083.1:n.979+124_979+126del
XM_017011739.1:c.529+124_529+126del	XP_016867228.1:n.529+124_529+126del
XM_017011740.1:c.529+124_529+126del	XP_016867229.1:n.529+124_529+126del
NM_000083.3:c.979+124_979+126del MANE Select	NP_000074.3:n.979+124_979+126del
NR_046453.2:n.1084+124_1084+126del