Canonical Allele Identifier: CA2685382769

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321311-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321313del , CM000669.2:g.143321313del	GRCh38
NC_000007.13:g.143018406del , CM000669.1:g.143018406del	GRCh37
NC_000007.12:g.142728528del	NCBI36
NG_009815.1:g.10188del
NG_009815.2:g.10188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-52del	ENSP00000498052.2:n.434-52del
ENST00000343257.7:c.434-52del MANE Select	ENSP00000339867.2:n.434-52del
ENST00000432192.6:c.202-52del
ENST00000650516.1:c.434-52del	ENSP00000498052.1:n.434-52del
ENST00000343257.6:c.434-52del	ENSP00000339867.2:n.434-52del
NM_000083.2:c.434-52del	NP_000074.2:n.434-52del
NR_046453.1:n.521-52del
XM_011515781.1:c.434-52del	XP_011514083.1:n.434-52del
XM_017011739.1:c.141-52del	XP_016867228.1:n.141-52del
XM_017011740.1:c.141-52del	XP_016867229.1:n.141-52del
NM_000083.3:c.434-52del MANE Select	NP_000074.3:n.434-52del
NR_046453.2:n.536-52del