Canonical Allele Identifier: CA2967173708

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321284dup , CM000669.2:g.143321284dup	GRCh38
NC_000007.13:g.143018377dup , CM000669.1:g.143018377dup	GRCh37
NC_000007.12:g.142728499dup	NCBI36
NG_009815.1:g.10159dup
NG_009815.2:g.10159dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.434-81dup MANE Select	NP_000074.3:n.434-81dup
ENST00000343257.7:c.434-81dup MANE Select	ENSP00000339867.2:n.434-81dup
NM_000083.2:c.434-81dup	NP_000074.2:n.434-81dup
NR_046453.1:n.521-81dup
NR_046453.2:n.536-81dup
ENST00000343257.6:c.434-81dup	ENSP00000339867.2:n.434-81dup
ENST00000432192.6:c.202-81dup
ENST00000650516.1:c.434-81dup	ENSP00000498052.1:n.434-81dup
ENST00000650516.2:c.434-81dup	ENSP00000498052.2:n.434-81dup
XM_011515781.1:c.434-81dup	XP_011514083.1:n.434-81dup
XM_017011739.1:c.141-81dup	XP_016867228.1:n.141-81dup
XM_017011740.1:c.141-81dup	XP_016867229.1:n.141-81dup