Canonical Allele Identifier: CA834507489

Gene: CLCN1

Linked Data

• dbSNP Id: rs1324834910
• MyVariant Identifiers: chr7:g.143019224_143019225del (hg19) ; chr7:g.143322131_143322132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322132_143322133del , CM000669.2:g.143322132_143322133del	GRCh38
NC_000007.13:g.143019225_143019226del , CM000669.1:g.143019225_143019226del	GRCh37
NC_000007.12:g.142729347_142729348del	NCBI36
NG_009815.1:g.11007_11008del
NG_009815.2:g.11007_11008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+284_696+285del	ENSP00000498052.2:n.696+284_696+285del
ENST00000343257.7:c.696+284_696+285del MANE Select	ENSP00000339867.2:n.696+284_696+285del
ENST00000432192.6:c.464+284_464+285del
ENST00000455478.6:c.150+284_150+285del	ENSP00000400027.2:n.150+284_150+285del
ENST00000650516.1:c.696+284_696+285del	ENSP00000498052.1:n.696+284_696+285del
ENST00000343257.6:c.696+284_696+285del	ENSP00000339867.2:n.696+284_696+285del
ENST00000432192.5:c.154+284_154+285del
ENST00000455478.5:c.154+284_154+285del
ENST00000495612.1:n.154+284_154+285del
NM_000083.2:c.696+284_696+285del	NP_000074.2:n.696+284_696+285del
NR_046453.1:n.783+284_783+285del
XM_011515781.1:c.696+284_696+285del	XP_011514083.1:n.696+284_696+285del
XM_017011739.1:c.403+284_403+285del	XP_016867228.1:n.403+284_403+285del
XM_017011740.1:c.403+284_403+285del	XP_016867229.1:n.403+284_403+285del
NM_000083.3:c.696+284_696+285del MANE Select	NP_000074.3:n.696+284_696+285del
NR_046453.2:n.798+284_798+285del