Canonical Allele Identifier: CA1748889053

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331090_143331091delinsCG , CM000669.2:g.143331090_143331091delinsCG	GRCh38
NC_000007.13:g.143028183_143028184delinsCG , CM000669.1:g.143028183_143028184delinsCG	GRCh37
NC_000007.12:g.142738305_142738306delinsCG	NCBI36
NG_009815.1:g.19965_19966delinsCG
NG_009815.2:g.19965_19966delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.980-142_980-141delinsCG	ENSP00000498052.2:n.980-142_980-141delinsCG
ENST00000343257.7:c.980-142_980-141delinsCG MANE Select	ENSP00000339867.2:n.980-142_980-141delinsCG
ENST00000432192.6:c.804-142_804-141delinsCG
ENST00000343257.6:c.980-142_980-141delinsCG	ENSP00000339867.2:n.980-142_980-141delinsCG
NM_000083.2:c.980-142_980-141delinsCG	NP_000074.2:n.980-142_980-141delinsCG
NR_046453.1:n.1070-142_1070-141delinsCG
XM_011515781.1:c.980-142_980-141delinsCG	XP_011514083.1:n.980-142_980-141delinsCG
XM_017011739.1:c.530-142_530-141delinsCG	XP_016867228.1:n.530-142_530-141delinsCG
XM_017011740.1:c.530-142_530-141delinsCG	XP_016867229.1:n.530-142_530-141delinsCG
NM_000083.3:c.980-142_980-141delinsCG MANE Select	NP_000074.3:n.980-142_980-141delinsCG
NR_046453.2:n.1085-142_1085-141delinsCG