Canonical Allele Identifier: CA2605200106

Gene: CLCN1

Linked Data

• gnomAD v3: 7-143321314-A-AT
• gnomAD v4: 7-143321314-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321314_143321315insT , CM000669.2:g.143321314_143321315insT	GRCh38
NC_000007.13:g.143018407_143018408insT , CM000669.1:g.143018407_143018408insT	GRCh37
NC_000007.12:g.142728529_142728530insT	NCBI36
NG_009815.1:g.10189_10190insT
NG_009815.2:g.10189_10190insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-51_434-50insT	ENSP00000498052.2:n.434-51_434-50insT
ENST00000343257.7:c.434-51_434-50insT MANE Select	ENSP00000339867.2:n.434-51_434-50insT
ENST00000432192.6:c.202-51_202-50insT
ENST00000650516.1:c.434-51_434-50insT	ENSP00000498052.1:n.434-51_434-50insT
ENST00000343257.6:c.434-51_434-50insT	ENSP00000339867.2:n.434-51_434-50insT
NM_000083.2:c.434-51_434-50insT	NP_000074.2:n.434-51_434-50insT
NR_046453.1:n.521-51_521-50insT
XM_011515781.1:c.434-51_434-50insT	XP_011514083.1:n.434-51_434-50insT
XM_017011739.1:c.141-51_141-50insT	XP_016867228.1:n.141-51_141-50insT
XM_017011740.1:c.141-51_141-50insT	XP_016867229.1:n.141-51_141-50insT
NM_000083.3:c.434-51_434-50insT MANE Select	NP_000074.3:n.434-51_434-50insT
NR_046453.2:n.536-51_536-50insT