Canonical Allele Identifier: CA2838365955

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321817dup , CM000669.2:g.143321817dup	GRCh38
NC_000007.13:g.143018910dup , CM000669.1:g.143018910dup	GRCh37
NC_000007.12:g.142729032dup	NCBI36
NG_009815.1:g.10692dup
NG_009815.2:g.10692dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.665dup	ENSP00000498052.2:p.Leu223ProfsTer?
ENST00000343257.7:c.665dup MANE Select	ENSP00000339867.2:p.Leu223ProfsTer?
ENST00000432192.6:c.433dup
ENST00000455478.6:c.119dup	ENSP00000400027.2:p.Leu41ProfsTer?
ENST00000650516.1:c.665dup	ENSP00000498052.1:p.Leu223ProfsTer?
ENST00000343257.6:c.665dup	ENSP00000339867.2:p.Leu223ProfsTer?
ENST00000432192.5:c.123dup
ENST00000455478.5:c.123dup
ENST00000495612.1:n.123dup
NM_000083.2:c.665dup	NP_000074.2:p.Leu223ProfsTer?
NR_046453.1:n.752dup
XM_011515781.1:c.665dup	XP_011514083.1:p.Leu223ProfsTer?
XM_017011739.1:c.372dup	XP_016867228.1:p.Pro125AlafsTer15
XM_017011740.1:c.372dup	XP_016867229.1:p.Pro125AlafsTer15
NM_000083.3:c.665dup MANE Select	NP_000074.3:p.Leu223ProfsTer?
NR_046453.2:n.767dup