Canonical Allele Identifier: CA2685380224

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342070-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342075_143342078del , CM000669.2:g.143342075_143342078del	GRCh38
NC_000007.13:g.143039168_143039171del , CM000669.1:g.143039168_143039171del	GRCh37
NC_000007.12:g.142749290_142749293del	NCBI36
NG_009815.1:g.30950_30953del
NG_009815.2:g.30950_30953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1729_1732del	ENSP00000498052.2:p.Leu577MetfsTer?
ENST00000343257.7:c.1729_1732del MANE Select	ENSP00000339867.2:p.Leu577MetfsTer?
ENST00000432192.6:c.1553_1556del
ENST00000343257.6:c.1729_1732del	ENSP00000339867.2:p.Leu577MetfsTer?
NM_000083.2:c.1729_1732del	NP_000074.2:p.Leu577MetfsTer?
NR_046453.1:n.1669_1672del
XM_011515781.1:c.1753_1756del	XP_011514083.1:p.Leu585MetfsTer?
XM_011515782.1:c.475_478del	XP_011514084.1:p.Leu159MetfsTer?
XM_011515782.2:c.475_478del	XP_011514084.1:p.Leu159MetfsTer?
XM_017011739.1:c.1303_1306del	XP_016867228.1:p.Leu435MetfsTer?
XM_017011740.1:c.1279_1282del	XP_016867229.1:p.Leu427MetfsTer?
NM_000083.3:c.1729_1732del MANE Select	NP_000074.3:p.Leu577MetfsTer?
NR_046453.2:n.1684_1687del