Canonical Allele Identifier: CA1748898288

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351697_143351698delinsCT , CM000669.2:g.143351697_143351698delinsCT	GRCh38
NC_000007.13:g.143048790_143048791delinsCT , CM000669.1:g.143048790_143048791delinsCT	GRCh37
NC_000007.12:g.142758912_142758913delinsCT	NCBI36
NG_009815.1:g.40572_40573delinsCT
NG_009815.2:g.40572_40573delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2699_2700delinsCT	ENSP00000498052.2:p.Pro900=
ENST00000343257.7:c.2699_2700delinsCT MANE Select	ENSP00000339867.2:p.Pro900=
ENST00000432192.6:c.2523_2524delinsCT
ENST00000343257.6:c.2699_2700delinsCT	ENSP00000339867.2:p.Pro900=
NM_000083.2:c.2699_2700delinsCT	NP_000074.2:p.Pro900=
NR_046453.1:n.2639_2640delinsCT
XM_011515781.1:c.2723_2724delinsCT	XP_011514083.1:p.Pro908=
XM_011515782.1:c.1445_1446delinsCT	XP_011514084.1:p.Pro482=
XM_011515782.2:c.1445_1446delinsCT	XP_011514084.1:p.Pro482=
XM_017011739.1:c.2273_2274delinsCT	XP_016867228.1:p.Pro758=
XM_017011740.1:c.2249_2250delinsCT	XP_016867229.1:p.Pro750=
NM_000083.3:c.2699_2700delinsCT MANE Select	NP_000074.3:p.Pro900=
NR_046453.2:n.2654_2655delinsCT