Canonical Allele Identifier: CA2695208680

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321753dup , CM000669.2:g.143321753dup	GRCh38
NC_000007.13:g.143018846dup , CM000669.1:g.143018846dup	GRCh37
NC_000007.12:g.142728968dup	NCBI36
NG_009815.1:g.10628dup
NG_009815.2:g.10628dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.601dup	ENSP00000498052.2:p.Val201GlyfsTer?
ENST00000343257.7:c.601dup MANE Select	ENSP00000339867.2:p.Val201GlyfsTer?
ENST00000432192.6:c.369dup
ENST00000455478.6:c.55dup	ENSP00000400027.2:p.Val19GlyfsTer?
ENST00000650516.1:c.601dup	ENSP00000498052.1:p.Val201GlyfsTer?
ENST00000343257.6:c.601dup	ENSP00000339867.2:p.Val201GlyfsTer?
ENST00000432192.5:c.59dup
ENST00000455478.5:c.59dup
ENST00000495612.1:n.59dup
NM_000083.2:c.601dup	NP_000074.2:p.Val201GlyfsTer?
NR_046453.1:n.688dup
XM_011515781.1:c.601dup	XP_011514083.1:p.Val201GlyfsTer?
XM_017011739.1:c.308dup	XP_016867228.1:p.Cys104LeufsTer3
XM_017011740.1:c.308dup	XP_016867229.1:p.Cys104LeufsTer3
NM_000083.3:c.601dup MANE Select	NP_000074.3:p.Val201GlyfsTer?
NR_046453.2:n.703dup