Canonical Allele Identifier: CA1748882123

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322100_143322102delinsCTG , CM000669.2:g.143322100_143322102delinsCTG	GRCh38
NC_000007.13:g.143019193_143019195delinsCTG , CM000669.1:g.143019193_143019195delinsCTG	GRCh37
NC_000007.12:g.142729315_142729317delinsCTG	NCBI36
NG_009815.1:g.10975_10977delinsCTG
NG_009815.2:g.10975_10977delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+252_696+254delinsCTG	ENSP00000498052.2:n.696+252_696+254delinsCTG
ENST00000343257.7:c.696+252_696+254delinsCTG MANE Select	ENSP00000339867.2:n.696+252_696+254delinsCTG
ENST00000432192.6:c.464+252_464+254delinsCTG
ENST00000455478.6:c.150+252_150+254delinsCTG	ENSP00000400027.2:n.150+252_150+254delinsCTG
ENST00000650516.1:c.696+252_696+254delinsCTG	ENSP00000498052.1:n.696+252_696+254delinsCTG
ENST00000343257.6:c.696+252_696+254delinsCTG	ENSP00000339867.2:n.696+252_696+254delinsCTG
ENST00000432192.5:c.154+252_154+254delinsCTG
ENST00000455478.5:c.154+252_154+254delinsCTG
ENST00000495612.1:n.154+252_154+254delinsCTG
NM_000083.2:c.696+252_696+254delinsCTG	NP_000074.2:n.696+252_696+254delinsCTG
NR_046453.1:n.783+252_783+254delinsCTG
XM_011515781.1:c.696+252_696+254delinsCTG	XP_011514083.1:n.696+252_696+254delinsCTG
XM_017011739.1:c.403+252_403+254delinsCTG	XP_016867228.1:n.403+252_403+254delinsCTG
XM_017011740.1:c.403+252_403+254delinsCTG	XP_016867229.1:n.403+252_403+254delinsCTG
NM_000083.3:c.696+252_696+254delinsCTG MANE Select	NP_000074.3:n.696+252_696+254delinsCTG
NR_046453.2:n.798+252_798+254delinsCTG