Canonical Allele Identifier: CA1748898366

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803420562

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351862_143351867dup , CM000669.2:g.143351862_143351867dup	GRCh38
NC_000007.13:g.143048955_143048960dup , CM000669.1:g.143048955_143048960dup	GRCh37
NC_000007.12:g.142759077_142759082dup	NCBI36
NG_009815.1:g.40737_40742dup
NG_009815.2:g.40737_40742dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2864_2869dup	ENSP00000498052.2:p.Leu956_Val957insGluLeu
ENST00000343257.7:c.2864_2869dup MANE Select	ENSP00000339867.2:p.Leu956_Val957insGluLeu
ENST00000343257.6:c.2864_2869dup	ENSP00000339867.2:p.Leu956_Val957insGluLeu
NM_000083.2:c.2864_2869dup	NP_000074.2:p.Leu956_Val957insGluLeu
NR_046453.1:n.2804_2809dup
XM_011515781.1:c.2888_2893dup	XP_011514083.1:p.Leu964_Val965insGluLeu
XM_011515782.1:c.1610_1615dup	XP_011514084.1:p.Leu538_Val539insGluLeu
XM_011515782.2:c.1610_1615dup	XP_011514084.1:p.Leu538_Val539insGluLeu
XM_017011739.1:c.2438_2443dup	XP_016867228.1:p.Leu814_Val815insGluLeu
XM_017011740.1:c.2414_2419dup	XP_016867229.1:p.Leu806_Val807insGluLeu
NM_000083.3:c.2864_2869dup MANE Select	NP_000074.3:p.Leu956_Val957insGluLeu
NR_046453.2:n.2819_2824dup