Canonical Allele Identifier: CA2579050548

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143321568-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321571_143321572del , CM000669.2:g.143321571_143321572del	GRCh38
NC_000007.13:g.143018664_143018665del , CM000669.1:g.143018664_143018665del	GRCh37
NC_000007.12:g.142728786_142728787del	NCBI36
NG_009815.1:g.10446_10447del
NG_009815.2:g.10446_10447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+78_562+79del	ENSP00000498052.2:n.562+78_562+79del
ENST00000343257.7:c.562+78_562+79del MANE Select	ENSP00000339867.2:n.562+78_562+79del
ENST00000432192.6:c.330+78_330+79del
ENST00000455478.6:c.16+78_16+79del	ENSP00000400027.2:n.16+78_16+79del
ENST00000650516.1:c.562+78_562+79del	ENSP00000498052.1:n.562+78_562+79del
ENST00000343257.6:c.562+78_562+79del	ENSP00000339867.2:n.562+78_562+79del
ENST00000432192.5:c.20+78_20+79del
ENST00000455478.5:c.20+78_20+79del
ENST00000495612.1:n.20+78_20+79del
NM_000083.2:c.562+78_562+79del	NP_000074.2:n.562+78_562+79del
NR_046453.1:n.649+78_649+79del
XM_011515781.1:c.562+78_562+79del	XP_011514083.1:n.562+78_562+79del
XM_017011739.1:c.269+78_269+79del	XP_016867228.1:n.269+78_269+79del
XM_017011740.1:c.269+78_269+79del	XP_016867229.1:n.269+78_269+79del
NM_000083.3:c.562+78_562+79del MANE Select	NP_000074.3:n.562+78_562+79del
NR_046453.2:n.664+78_664+79del