Canonical Allele Identifier: CA2778230591

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321531_143321532del , CM000669.2:g.143321531_143321532del	GRCh38
NC_000007.13:g.143018624_143018625del , CM000669.1:g.143018624_143018625del	GRCh37
NC_000007.12:g.142728746_142728747del	NCBI36
NG_009815.1:g.10406_10407del
NG_009815.2:g.10406_10407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+38_562+39del	ENSP00000498052.2:n.562+38_562+39del
ENST00000343257.7:c.562+38_562+39del MANE Select	ENSP00000339867.2:n.562+38_562+39del
ENST00000432192.6:c.330+38_330+39del
ENST00000455478.6:c.16+38_16+39del	ENSP00000400027.2:n.16+38_16+39del
ENST00000650516.1:c.562+38_562+39del	ENSP00000498052.1:n.562+38_562+39del
ENST00000343257.6:c.562+38_562+39del	ENSP00000339867.2:n.562+38_562+39del
ENST00000432192.5:c.20+38_20+39del
ENST00000455478.5:c.20+38_20+39del
ENST00000495612.1:n.20+38_20+39del
NM_000083.2:c.562+38_562+39del	NP_000074.2:n.562+38_562+39del
NR_046453.1:n.649+38_649+39del
XM_011515781.1:c.562+38_562+39del	XP_011514083.1:n.562+38_562+39del
XM_017011739.1:c.269+38_269+39del	XP_016867228.1:n.269+38_269+39del
XM_017011740.1:c.269+38_269+39del	XP_016867229.1:n.269+38_269+39del
NM_000083.3:c.562+38_562+39del MANE Select	NP_000074.3:n.562+38_562+39del
NR_046453.2:n.664+38_664+39del