Canonical Allele Identifier: CA1748882125

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802455800

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322103_143322104del , CM000669.2:g.143322103_143322104del	GRCh38
NC_000007.13:g.143019196_143019197del , CM000669.1:g.143019196_143019197del	GRCh37
NC_000007.12:g.142729318_142729319del	NCBI36
NG_009815.1:g.10978_10979del
NG_009815.2:g.10978_10979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+255_696+256del	ENSP00000498052.2:n.696+255_696+256del
ENST00000343257.7:c.696+255_696+256del MANE Select	ENSP00000339867.2:n.696+255_696+256del
ENST00000432192.6:c.464+255_464+256del
ENST00000455478.6:c.150+255_150+256del	ENSP00000400027.2:n.150+255_150+256del
ENST00000650516.1:c.696+255_696+256del	ENSP00000498052.1:n.696+255_696+256del
ENST00000343257.6:c.696+255_696+256del	ENSP00000339867.2:n.696+255_696+256del
ENST00000432192.5:c.154+255_154+256del
ENST00000455478.5:c.154+255_154+256del
ENST00000495612.1:n.154+255_154+256del
NM_000083.2:c.696+255_696+256del	NP_000074.2:n.696+255_696+256del
NR_046453.1:n.783+255_783+256del
XM_011515781.1:c.696+255_696+256del	XP_011514083.1:n.696+255_696+256del
XM_017011739.1:c.403+255_403+256del	XP_016867228.1:n.403+255_403+256del
XM_017011740.1:c.403+255_403+256del	XP_016867229.1:n.403+255_403+256del
NM_000083.3:c.696+255_696+256del MANE Select	NP_000074.3:n.696+255_696+256del
NR_046453.2:n.798+255_798+256del