Canonical Allele Identifier: CA2580077640

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2109533
• ClinVar RCV Id: RCV003038414

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332752del , CM000669.2:g.143332752del	GRCh38
NC_000007.13:g.143029845del , CM000669.1:g.143029845del	GRCh37
NC_000007.12:g.142739967del	NCBI36
NG_009815.1:g.21627del
NG_009815.2:g.21627del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1280del	ENSP00000498052.2:p.Leu427CysfsTer8
ENST00000343257.7:c.1280del MANE Select	ENSP00000339867.2:p.Leu427CysfsTer8
ENST00000432192.6:c.1104del
ENST00000343257.6:c.1280del	ENSP00000339867.2:p.Leu427CysfsTer8
NM_000083.2:c.1280del	NP_000074.2:p.Leu427CysfsTer8
NR_046453.1:n.1341+249del
XM_011515781.1:c.1304del	XP_011514083.1:p.Leu435CysfsTer8
XM_011515782.1:c.26del	XP_011514084.1:p.Leu9CysfsTer8
XM_011515782.2:c.26del	XP_011514084.1:p.Leu9CysfsTer8
XM_017011739.1:c.854del	XP_016867228.1:p.Leu285CysfsTer8
XM_017011740.1:c.830del	XP_016867229.1:p.Leu277CysfsTer8
NM_000083.3:c.1280del MANE Select	NP_000074.3:p.Leu427CysfsTer8
NR_046453.2:n.1356+249del