Canonical Allele Identifier: CA2685382770

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321313-G-GACAC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321314_143321317dup , CM000669.2:g.143321314_143321317dup	GRCh38
NC_000007.13:g.143018407_143018410dup , CM000669.1:g.143018407_143018410dup	GRCh37
NC_000007.12:g.142728529_142728532dup	NCBI36
NG_009815.1:g.10189_10192dup
NG_009815.2:g.10189_10192dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-51_434-48dup	ENSP00000498052.2:n.434-51_434-48dup
ENST00000343257.7:c.434-51_434-48dup MANE Select	ENSP00000339867.2:n.434-51_434-48dup
ENST00000432192.6:c.202-51_202-48dup
ENST00000650516.1:c.434-51_434-48dup	ENSP00000498052.1:n.434-51_434-48dup
ENST00000343257.6:c.434-51_434-48dup	ENSP00000339867.2:n.434-51_434-48dup
NM_000083.2:c.434-51_434-48dup	NP_000074.2:n.434-51_434-48dup
NR_046453.1:n.521-51_521-48dup
XM_011515781.1:c.434-51_434-48dup	XP_011514083.1:n.434-51_434-48dup
XM_017011739.1:c.141-51_141-48dup	XP_016867228.1:n.141-51_141-48dup
XM_017011740.1:c.141-51_141-48dup	XP_016867229.1:n.141-51_141-48dup
NM_000083.3:c.434-51_434-48dup MANE Select	NP_000074.3:n.434-51_434-48dup
NR_046453.2:n.536-51_536-48dup