Canonical Allele Identifier: CA645545736

Gene: CLCN1

Linked Data

• COSMIC: COSM4517018

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351647_143351648delinsTT , CM000669.2:g.143351647_143351648delinsTT	GRCh38
NC_000007.13:g.143048740_143048741delinsTT , CM000669.1:g.143048740_143048741delinsTT	GRCh37
NC_000007.12:g.142758862_142758863delinsTT	NCBI36
NG_009815.1:g.40522_40523delinsTT
NG_009815.2:g.40522_40523delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2649_2650delinsTT	ENSP00000498052.2:p.Leu884Phe
ENST00000343257.7:c.2649_2650delinsTT MANE Select	ENSP00000339867.2:p.Leu884Phe
ENST00000432192.6:c.2473_2474delinsTT
ENST00000343257.6:c.2649_2650delinsTT	ENSP00000339867.2:p.Leu884Phe
NM_000083.2:c.2649_2650delinsTT	NP_000074.2:p.Leu884Phe
NR_046453.1:n.2589_2590delinsTT
XM_011515781.1:c.2673_2674delinsTT	XP_011514083.1:p.Leu892Phe
XM_011515782.1:c.1395_1396delinsTT	XP_011514084.1:p.Leu466Phe
XM_011515782.2:c.1395_1396delinsTT	XP_011514084.1:p.Leu466Phe
XM_017011739.1:c.2223_2224delinsTT	XP_016867228.1:p.Leu742Phe
XM_017011740.1:c.2199_2200delinsTT	XP_016867229.1:p.Leu734Phe
NM_000083.3:c.2649_2650delinsTT MANE Select	NP_000074.3:p.Leu884Phe
NR_046453.2:n.2604_2605delinsTT