Canonical Allele Identifier: CA2695208612

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332762_143332763del , CM000669.2:g.143332762_143332763del	GRCh38
NC_000007.13:g.143029855_143029856del , CM000669.1:g.143029855_143029856del	GRCh37
NC_000007.12:g.142739977_142739978del	NCBI36
NG_009815.1:g.21637_21638del
NG_009815.2:g.21637_21638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1290_1291del	ENSP00000498052.2:p.Asn430LysfsTer9
ENST00000343257.7:c.1290_1291del MANE Select	ENSP00000339867.2:p.Asn430LysfsTer9
ENST00000432192.6:c.1114_1115del
ENST00000343257.6:c.1290_1291del	ENSP00000339867.2:p.Asn430LysfsTer9
NM_000083.2:c.1290_1291del	NP_000074.2:p.Asn430LysfsTer9
NR_046453.1:n.1341+259_1341+260del
XM_011515781.1:c.1314_1315del	XP_011514083.1:p.Asn438LysfsTer9
XM_011515782.1:c.36_37del	XP_011514084.1:p.Asn12LysfsTer9
XM_011515782.2:c.36_37del	XP_011514084.1:p.Asn12LysfsTer9
XM_017011739.1:c.864_865del	XP_016867228.1:p.Asn288LysfsTer9
XM_017011740.1:c.840_841del	XP_016867229.1:p.Asn280LysfsTer9
NM_000083.3:c.1290_1291del MANE Select	NP_000074.3:p.Asn430LysfsTer9
NR_046453.2:n.1356+259_1356+260del