Canonical Allele Identifier: CA2685382642

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351644-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351648dup , CM000669.2:g.143351648dup	GRCh38
NC_000007.13:g.143048741dup , CM000669.1:g.143048741dup	GRCh37
NC_000007.12:g.142758863dup	NCBI36
NG_009815.1:g.40523dup
NG_009815.2:g.40523dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2650dup	ENSP00000498052.2:p.Leu884ProfsTer28
ENST00000343257.7:c.2650dup MANE Select	ENSP00000339867.2:p.Leu884ProfsTer28
ENST00000432192.6:c.2474dup
ENST00000343257.6:c.2650dup	ENSP00000339867.2:p.Leu884ProfsTer28
NM_000083.2:c.2650dup	NP_000074.2:p.Leu884ProfsTer28
NR_046453.1:n.2590dup
XM_011515781.1:c.2674dup	XP_011514083.1:p.Leu892ProfsTer28
XM_011515782.1:c.1396dup	XP_011514084.1:p.Leu466ProfsTer28
XM_011515782.2:c.1396dup	XP_011514084.1:p.Leu466ProfsTer28
XM_017011739.1:c.2224dup	XP_016867228.1:p.Leu742ProfsTer28
XM_017011740.1:c.2200dup	XP_016867229.1:p.Leu734ProfsTer28
NM_000083.3:c.2650dup MANE Select	NP_000074.3:p.Leu884ProfsTer28
NR_046453.2:n.2605dup