Canonical Allele Identifier: CA1748898168

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351442_143351444delinsTTC , CM000669.2:g.143351442_143351444delinsTTC	GRCh38
NC_000007.13:g.143048535_143048537delinsTTC , CM000669.1:g.143048535_143048537delinsTTC	GRCh37
NC_000007.12:g.142758657_142758659delinsTTC	NCBI36
NG_009815.1:g.40317_40319delinsTTC
NG_009815.2:g.40317_40319delinsTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-152_2596-150delinsTTC	ENSP00000498052.2:n.2596-152_2596-150delinsTTC
ENST00000343257.7:c.2596-152_2596-150delinsTTC MANE Select	ENSP00000339867.2:n.2596-152_2596-150delinsTTC
ENST00000432192.6:c.2420-152_2420-150delinsTTC
ENST00000343257.6:c.2596-152_2596-150delinsTTC	ENSP00000339867.2:n.2596-152_2596-150delinsTTC
NM_000083.2:c.2596-152_2596-150delinsTTC	NP_000074.2:n.2596-152_2596-150delinsTTC
NR_046453.1:n.2536-152_2536-150delinsTTC
XM_011515781.1:c.2620-152_2620-150delinsTTC	XP_011514083.1:n.2620-152_2620-150delinsTTC
XM_011515782.1:c.1342-152_1342-150delinsTTC	XP_011514084.1:n.1342-152_1342-150delinsTTC
XM_011515782.2:c.1342-152_1342-150delinsTTC	XP_011514084.1:n.1342-152_1342-150delinsTTC
XM_017011739.1:c.2170-152_2170-150delinsTTC	XP_016867228.1:n.2170-152_2170-150delinsTTC
XM_017011740.1:c.2146-152_2146-150delinsTTC	XP_016867229.1:n.2146-152_2146-150delinsTTC
NM_000083.3:c.2596-152_2596-150delinsTTC MANE Select	NP_000074.3:n.2596-152_2596-150delinsTTC
NR_046453.2:n.2551-152_2551-150delinsTTC