Canonical Allele Identifier: CA2579050779

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332520-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332522del , CM000669.2:g.143332522del	GRCh38
NC_000007.13:g.143029615del , CM000669.1:g.143029615del	GRCh37
NC_000007.12:g.142739737del	NCBI36
NG_009815.1:g.21397del
NG_009815.2:g.21397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1251+19del	ENSP00000498052.2:n.1251+19del
ENST00000343257.7:c.1251+19del MANE Select	ENSP00000339867.2:n.1251+19del
ENST00000432192.6:c.1075+19del
ENST00000343257.6:c.1251+19del	ENSP00000339867.2:n.1251+19del
NM_000083.2:c.1251+19del	NP_000074.2:n.1251+19del
NR_046453.1:n.1341+19del
XM_011515781.1:c.1270del	XP_011514083.1:p.His424ThrfsTer3
XM_011515782.1:c.-3-202del	XP_011514084.1:n.-3-202del
XM_011515782.2:c.-3-202del	XP_011514084.1:n.-3-202del
XM_017011739.1:c.820del	XP_016867228.1:p.His274ThrfsTer3
XM_017011740.1:c.801+19del	XP_016867229.1:n.801+19del
NM_000083.3:c.1251+19del MANE Select	NP_000074.3:n.1251+19del
NR_046453.2:n.1356+19del