Canonical Allele Identifier: CA2685383016

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321551-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321554_143321555dup , CM000669.2:g.143321554_143321555dup	GRCh38
NC_000007.13:g.143018647_143018648dup , CM000669.1:g.143018647_143018648dup	GRCh37
NC_000007.12:g.142728769_142728770dup	NCBI36
NG_009815.1:g.10429_10430dup
NG_009815.2:g.10429_10430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+61_562+62dup	ENSP00000498052.2:n.562+61_562+62dup
ENST00000343257.7:c.562+61_562+62dup MANE Select	ENSP00000339867.2:n.562+61_562+62dup
ENST00000432192.6:c.330+61_330+62dup
ENST00000455478.6:c.16+61_16+62dup	ENSP00000400027.2:n.16+61_16+62dup
ENST00000650516.1:c.562+61_562+62dup	ENSP00000498052.1:n.562+61_562+62dup
ENST00000343257.6:c.562+61_562+62dup	ENSP00000339867.2:n.562+61_562+62dup
ENST00000432192.5:c.20+61_20+62dup
ENST00000455478.5:c.20+61_20+62dup
ENST00000495612.1:n.20+61_20+62dup
NM_000083.2:c.562+61_562+62dup	NP_000074.2:n.562+61_562+62dup
NR_046453.1:n.649+61_649+62dup
XM_011515781.1:c.562+61_562+62dup	XP_011514083.1:n.562+61_562+62dup
XM_017011739.1:c.269+61_269+62dup	XP_016867228.1:n.269+61_269+62dup
XM_017011740.1:c.269+61_269+62dup	XP_016867229.1:n.269+61_269+62dup
NM_000083.3:c.562+61_562+62dup MANE Select	NP_000074.3:n.562+61_562+62dup
NR_046453.2:n.664+61_664+62dup