Canonical Allele Identifier: CA2685380372

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143350501-G-GGCTGTGGGGAAGGCAGGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350511_143350530dup , CM000669.2:g.143350511_143350530dup	GRCh38
NC_000007.13:g.143047604_143047623dup , CM000669.1:g.143047604_143047623dup	GRCh37
NC_000007.12:g.142757726_142757745dup	NCBI36
NG_009815.1:g.39386_39405dup
NG_009815.2:g.39386_39405dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2508+35_2509-38dup	ENSP00000498052.2:n.2508+35_2509-38dup
ENST00000343257.7:c.2508+35_2509-38dup MANE Select	ENSP00000339867.2:n.2508+35_2509-38dup
ENST00000432192.6:c.2332+35_2333-38dup
ENST00000343257.6:c.2508+35_2509-38dup	ENSP00000339867.2:n.2508+35_2509-38dup
NM_000083.2:c.2508+35_2509-38dup	NP_000074.2:n.2508+35_2509-38dup
NR_046453.1:n.2448+35_2449-38dup
XM_011515781.1:c.2532+35_2533-38dup	XP_011514083.1:n.2532+35_2533-38dup
XM_011515782.1:c.1254+35_1255-38dup	XP_011514084.1:n.1254+35_1255-38dup
XM_011515782.2:c.1254+35_1255-38dup	XP_011514084.1:n.1254+35_1255-38dup
XM_017011739.1:c.2082+35_2083-38dup	XP_016867228.1:n.2082+35_2083-38dup
XM_017011740.1:c.2058+35_2059-38dup	XP_016867229.1:n.2058+35_2059-38dup
NM_000083.3:c.2508+35_2509-38dup MANE Select	NP_000074.3:n.2508+35_2509-38dup
NR_046453.2:n.2463+35_2464-38dup