Canonical Allele Identifier: CA2967173698

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321274dup , CM000669.2:g.143321274dup	GRCh38
NC_000007.13:g.143018367dup , CM000669.1:g.143018367dup	GRCh37
NC_000007.12:g.142728489dup	NCBI36
NG_009815.1:g.10149dup
NG_009815.2:g.10149dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.434-91dup MANE Select	NP_000074.3:n.434-91dup
ENST00000343257.7:c.434-91dup MANE Select	ENSP00000339867.2:n.434-91dup
NM_000083.2:c.434-91dup	NP_000074.2:n.434-91dup
NR_046453.1:n.521-91dup
NR_046453.2:n.536-91dup
ENST00000343257.6:c.434-91dup	ENSP00000339867.2:n.434-91dup
ENST00000432192.6:c.202-91dup
ENST00000650516.1:c.434-91dup	ENSP00000498052.1:n.434-91dup
ENST00000650516.2:c.434-91dup	ENSP00000498052.2:n.434-91dup
XM_011515781.1:c.434-91dup	XP_011514083.1:n.434-91dup
XM_017011739.1:c.141-91dup	XP_016867228.1:n.141-91dup
XM_017011740.1:c.141-91dup	XP_016867229.1:n.141-91dup