Canonical Allele Identifier: CA2605200108

Gene: CLCN1

Linked Data

• gnomAD v3: 7-143321319-GC-G
• gnomAD v4: 7-143321319-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321320del , CM000669.2:g.143321320del	GRCh38
NC_000007.13:g.143018413del , CM000669.1:g.143018413del	GRCh37
NC_000007.12:g.142728535del	NCBI36
NG_009815.1:g.10195del
NG_009815.2:g.10195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-45del	ENSP00000498052.2:n.434-45del
ENST00000343257.7:c.434-45del MANE Select	ENSP00000339867.2:n.434-45del
ENST00000432192.6:c.202-45del
ENST00000650516.1:c.434-45del	ENSP00000498052.1:n.434-45del
ENST00000343257.6:c.434-45del	ENSP00000339867.2:n.434-45del
NM_000083.2:c.434-45del	NP_000074.2:n.434-45del
NR_046453.1:n.521-45del
XM_011515781.1:c.434-45del	XP_011514083.1:n.434-45del
XM_017011739.1:c.141-45del	XP_016867228.1:n.141-45del
XM_017011740.1:c.141-45del	XP_016867229.1:n.141-45del
NM_000083.3:c.434-45del MANE Select	NP_000074.3:n.434-45del
NR_046453.2:n.536-45del