Canonical Allele Identifier: CA2685380233

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143342076-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342077del , CM000669.2:g.143342077del	GRCh38
NC_000007.13:g.143039170del , CM000669.1:g.143039170del	GRCh37
NC_000007.12:g.142749292del	NCBI36
NG_009815.1:g.30952del
NG_009815.2:g.30952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1731del	ENSP00000498052.2:p.Tyr578MetfsTer?
ENST00000343257.7:c.1731del MANE Select	ENSP00000339867.2:p.Tyr578MetfsTer?
ENST00000432192.6:c.1555del
ENST00000343257.6:c.1731del	ENSP00000339867.2:p.Tyr578MetfsTer?
NM_000083.2:c.1731del	NP_000074.2:p.Tyr578MetfsTer?
NR_046453.1:n.1671del
XM_011515781.1:c.1755del	XP_011514083.1:p.Tyr586MetfsTer?
XM_011515782.1:c.477del	XP_011514084.1:p.Tyr160MetfsTer?
XM_011515782.2:c.477del	XP_011514084.1:p.Tyr160MetfsTer?
XM_017011739.1:c.1305del	XP_016867228.1:p.Tyr436MetfsTer?
XM_017011740.1:c.1281del	XP_016867229.1:p.Tyr428MetfsTer?
NM_000083.3:c.1731del MANE Select	NP_000074.3:p.Tyr578MetfsTer?
NR_046453.2:n.1686del