Canonical Allele Identifier: CA1748898215

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351541_143351542delinsCT , CM000669.2:g.143351541_143351542delinsCT	GRCh38
NC_000007.13:g.143048634_143048635delinsCT , CM000669.1:g.143048634_143048635delinsCT	GRCh37
NC_000007.12:g.142758756_142758757delinsCT	NCBI36
NG_009815.1:g.40416_40417delinsCT
NG_009815.2:g.40416_40417delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2596-53_2596-52delinsCT	ENSP00000498052.2:n.2596-53_2596-52delins...
ENST00000343257.7:c.2596-53_2596-52delinsCT MANE Select	ENSP00000339867.2:n.2596-53_2596-52delins...
ENST00000432192.6:c.2420-53_2420-52delinsCT
ENST00000343257.6:c.2596-53_2596-52delinsCT	ENSP00000339867.2:n.2596-53_2596-52delins...
NM_000083.2:c.2596-53_2596-52delinsCT	NP_000074.2:n.2596-53_2596-52delinsCT
NR_046453.1:n.2536-53_2536-52delinsCT
XM_011515781.1:c.2620-53_2620-52delinsCT	XP_011514083.1:n.2620-53_2620-52delinsCT
XM_011515782.1:c.1342-53_1342-52delinsCT	XP_011514084.1:n.1342-53_1342-52delinsCT
XM_011515782.2:c.1342-53_1342-52delinsCT	XP_011514084.1:n.1342-53_1342-52delinsCT
XM_017011739.1:c.2170-53_2170-52delinsCT	XP_016867228.1:n.2170-53_2170-52delinsCT
XM_017011740.1:c.2146-53_2146-52delinsCT	XP_016867229.1:n.2146-53_2146-52delinsCT
NM_000083.3:c.2596-53_2596-52delinsCT MANE Select	NP_000074.3:n.2596-53_2596-52delinsCT
NR_046453.2:n.2551-53_2551-52delinsCT