Canonical Allele Identifier: CA2778231043

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143352027dup , CM000669.2:g.143352027dup	GRCh38
NC_000007.13:g.143049120dup , CM000669.1:g.143049120dup	GRCh37
NC_000007.12:g.142759242dup	NCBI36
NG_009815.1:g.40902dup
NG_009815.2:g.40902dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*62dup	ENSP00000498052.2:n.*62dup
ENST00000343257.7:c.*62dup MANE Select	ENSP00000339867.2:n.*62dup
ENST00000343257.6:c.*62dup	ENSP00000339867.2:n.*62dup
XM_011515781.1:c.*62dup	XP_011514083.1:n.*62dup
XM_011515782.1:c.*62dup	XP_011514084.1:n.*62dup
NM_000083.3:c.*62dup MANE Select	NP_000074.3:n.*62dup
NR_046453.2:n.2984dup