Canonical Allele Identifier: CA2778230593

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321536_143321538del , CM000669.2:g.143321536_143321538del	GRCh38
NC_000007.13:g.143018629_143018631del , CM000669.1:g.143018629_143018631del	GRCh37
NC_000007.12:g.142728751_142728753del	NCBI36
NG_009815.1:g.10411_10413del
NG_009815.2:g.10411_10413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.562+43_562+45del	ENSP00000498052.2:n.562+43_562+45del
ENST00000343257.7:c.562+43_562+45del MANE Select	ENSP00000339867.2:n.562+43_562+45del
ENST00000432192.6:c.330+43_330+45del
ENST00000455478.6:c.16+43_16+45del	ENSP00000400027.2:n.16+43_16+45del
ENST00000650516.1:c.562+43_562+45del	ENSP00000498052.1:n.562+43_562+45del
ENST00000343257.6:c.562+43_562+45del	ENSP00000339867.2:n.562+43_562+45del
ENST00000432192.5:c.20+43_20+45del
ENST00000455478.5:c.20+43_20+45del
ENST00000495612.1:n.20+43_20+45del
NM_000083.2:c.562+43_562+45del	NP_000074.2:n.562+43_562+45del
NR_046453.1:n.649+43_649+45del
XM_011515781.1:c.562+43_562+45del	XP_011514083.1:n.562+43_562+45del
XM_017011739.1:c.269+43_269+45del	XP_016867228.1:n.269+43_269+45del
XM_017011740.1:c.269+43_269+45del	XP_016867229.1:n.269+43_269+45del
NM_000083.3:c.562+43_562+45del MANE Select	NP_000074.3:n.562+43_562+45del
NR_046453.2:n.664+43_664+45del