Canonical Allele Identifier: CA2580077631

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1723139
• ClinVar RCV Id: RCV002306246

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351637_143351639del , CM000669.2:g.143351637_143351639del	GRCh38
NC_000007.13:g.143048730_143048732del , CM000669.1:g.143048730_143048732del	GRCh37
NC_000007.12:g.142758852_142758854del	NCBI36
NG_009815.1:g.40512_40514del
NG_009815.2:g.40512_40514del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2639_2641del	ENSP00000498052.2:p.Leu880del
ENST00000343257.7:c.2639_2641del MANE Select	ENSP00000339867.2:p.Leu880del
ENST00000432192.6:c.2463_2465del
ENST00000343257.6:c.2639_2641del	ENSP00000339867.2:p.Leu880del
NM_000083.2:c.2639_2641del	NP_000074.2:p.Leu880del
NR_046453.1:n.2579_2581del
XM_011515781.1:c.2663_2665del	XP_011514083.1:p.Leu888del
XM_011515782.1:c.1385_1387del	XP_011514084.1:p.Leu462del
XM_011515782.2:c.1385_1387del	XP_011514084.1:p.Leu462del
XM_017011739.1:c.2213_2215del	XP_016867228.1:p.Leu738del
XM_017011740.1:c.2189_2191del	XP_016867229.1:p.Leu730del
NM_000083.3:c.2639_2641del MANE Select	NP_000074.3:p.Leu880del
NR_046453.2:n.2594_2596del