Canonical Allele Identifier: CA2579051079

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351666_143351678del , CM000669.2:g.143351666_143351678del	GRCh38
NC_000007.13:g.143048759_143048771del , CM000669.1:g.143048759_143048771del	GRCh37
NC_000007.12:g.142758881_142758893del	NCBI36
NG_009815.1:g.40541_40553del
NG_009815.2:g.40541_40553del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2668_2680del	ENSP00000498052.2:p.Thr890GlufsTer29
ENST00000343257.7:c.2668_2680del MANE Select	ENSP00000339867.2:p.Thr890GlufsTer29
ENST00000432192.6:c.2492_2504del
ENST00000343257.6:c.2668_2680del	ENSP00000339867.2:p.Thr890GlufsTer29
NM_000083.2:c.2668_2680del	NP_000074.2:p.Thr890GlufsTer29
NR_046453.1:n.2608_2620del
XM_011515781.1:c.2692_2704del	XP_011514083.1:p.Thr898GlufsTer29
XM_011515782.1:c.1414_1426del	XP_011514084.1:p.Thr472GlufsTer29
XM_011515782.2:c.1414_1426del	XP_011514084.1:p.Thr472GlufsTer29
XM_017011739.1:c.2242_2254del	XP_016867228.1:p.Thr748GlufsTer29
XM_017011740.1:c.2218_2230del	XP_016867229.1:p.Thr740GlufsTer29
NM_000083.3:c.2668_2680del MANE Select	NP_000074.3:p.Thr890GlufsTer29
NR_046453.2:n.2623_2635del