Canonical Allele Identifier: CA891842699

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 585688
• ClinVar RCV Id: RCV000711229
• dbSNP Id: rs1563090152
• MyVariant Identifiers: chr7:g.143047682_143047684del (hg19) ; chr7:g.143350589_143350591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350589_143350591del , CM000669.2:g.143350589_143350591del	GRCh38
NC_000007.13:g.143047682_143047684del , CM000669.1:g.143047682_143047684del	GRCh37
NC_000007.12:g.142757804_142757806del	NCBI36
NG_009815.1:g.39464_39466del
NG_009815.2:g.39464_39466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2530_2532del	ENSP00000498052.2:p.Leu844del
ENST00000343257.7:c.2530_2532del MANE Select	ENSP00000339867.2:p.Leu844del
ENST00000432192.6:c.2354_2356del
ENST00000343257.6:c.2530_2532del	ENSP00000339867.2:p.Leu844del
NM_000083.2:c.2530_2532del	NP_000074.2:p.Leu844del
NR_046453.1:n.2470_2472del
XM_011515781.1:c.2554_2556del	XP_011514083.1:p.Leu852del
XM_011515782.1:c.1276_1278del	XP_011514084.1:p.Leu426del
XM_011515782.2:c.1276_1278del	XP_011514084.1:p.Leu426del
XM_017011739.1:c.2104_2106del	XP_016867228.1:p.Leu702del
XM_017011740.1:c.2080_2082del	XP_016867229.1:p.Leu694del
NM_000083.3:c.2530_2532del MANE Select	NP_000074.3:p.Leu844del
NR_046453.2:n.2485_2487del