Canonical Allele Identifier: CA1108121895

Gene: CLCN1

Linked Data

• gnomAD v3: 7-143321329-C-CGT
• gnomAD v4: 7-143321329-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321329_143321330insGT , CM000669.2:g.143321329_143321330insGT	GRCh38
NC_000007.13:g.143018422_143018423insGT , CM000669.1:g.143018422_143018423insGT	GRCh37
NC_000007.12:g.142728544_142728545insGT	NCBI36
NG_009815.1:g.10204_10205insGT
NG_009815.2:g.10204_10205insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-36_434-35insGT	ENSP00000498052.2:n.434-36_434-35insGT
ENST00000343257.7:c.434-36_434-35insGT MANE Select	ENSP00000339867.2:n.434-36_434-35insGT
ENST00000432192.6:c.202-36_202-35insGT
ENST00000650516.1:c.434-36_434-35insGT	ENSP00000498052.1:n.434-36_434-35insGT
ENST00000343257.6:c.434-36_434-35insGT	ENSP00000339867.2:n.434-36_434-35insGT
NM_000083.2:c.434-36_434-35insGT	NP_000074.2:n.434-36_434-35insGT
NR_046453.1:n.521-36_521-35insGT
XM_011515781.1:c.434-36_434-35insGT	XP_011514083.1:n.434-36_434-35insGT
XM_017011739.1:c.141-36_141-35insGT	XP_016867228.1:n.141-36_141-35insGT
XM_017011740.1:c.141-36_141-35insGT	XP_016867229.1:n.141-36_141-35insGT
NM_000083.3:c.434-36_434-35insGT MANE Select	NP_000074.3:n.434-36_434-35insGT
NR_046453.2:n.536-36_536-35insGT