Canonical Allele Identifier: CA2685378497

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143339269-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339271del , CM000669.2:g.143339271del	GRCh38
NC_000007.13:g.143036364del , CM000669.1:g.143036364del	GRCh37
NC_000007.12:g.142746486del	NCBI36
NG_009815.1:g.28146del
NG_009815.2:g.28146del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1420del	ENSP00000498052.2:p.Ala474ProfsTer17
ENST00000343257.7:c.1420del MANE Select	ENSP00000339867.2:p.Ala474ProfsTer17
ENST00000432192.6:c.1244del
ENST00000343257.6:c.1420del	ENSP00000339867.2:p.Ala474ProfsTer17
NM_000083.2:c.1420del	NP_000074.2:p.Ala474ProfsTer17
NR_046453.1:n.1360del
XM_011515781.1:c.1444del	XP_011514083.1:p.Ala482ProfsTer17
XM_011515782.1:c.166del	XP_011514084.1:p.Ala56ProfsTer17
XM_011515782.2:c.166del	XP_011514084.1:p.Ala56ProfsTer17
XM_017011739.1:c.994del	XP_016867228.1:p.Ala332ProfsTer17
XM_017011740.1:c.970del	XP_016867229.1:p.Ala324ProfsTer17
NM_000083.3:c.1420del MANE Select	NP_000074.3:p.Ala474ProfsTer17
NR_046453.2:n.1375del