Canonical Allele Identifier: CA1748881915

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802447739
• gnomAD v4: 7-143321847-AGGTAGGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321850_143321858del , CM000669.2:g.143321850_143321858del	GRCh38
NC_000007.13:g.143018943_143018951del , CM000669.1:g.143018943_143018951del	GRCh37
NC_000007.12:g.142729065_142729073del	NCBI36
NG_009815.1:g.10725_10733del
NG_009815.2:g.10725_10733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.696+2_696+10del
ENST00000343257.7:c.696+2_696+10del
ENST00000432192.6:c.464+2_464+10del
ENST00000455478.6:c.150+2_150+10del
ENST00000650516.1:c.696+2_696+10del
ENST00000343257.6:c.696+2_696+10del
ENST00000432192.5:c.154+2_154+10del
ENST00000455478.5:c.154+2_154+10del
ENST00000495612.1:n.154+2_154+10del
NM_000083.2:c.696+2_696+10del
NR_046453.1:n.783+2_783+10del
XM_011515781.1:c.696+2_696+10del
XM_017011739.1:c.403+2_403+10del
XM_017011740.1:c.403+2_403+10del
NM_000083.3:c.696+2_696+10del
NR_046453.2:n.798+2_798+10del