Canonical Allele Identifier: CA2579050675

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330817_143330821del , CM000669.2:g.143330817_143330821del	GRCh38
NC_000007.13:g.143027910_143027914del , CM000669.1:g.143027910_143027914del	GRCh37
NC_000007.12:g.142738032_142738036del	NCBI36
NG_009815.1:g.19692_19696del
NG_009815.2:g.19692_19696del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.899_903del	ENSP00000498052.2:p.Arg300LeufsTer?
ENST00000343257.7:c.899_903del MANE Select	ENSP00000339867.2:p.Arg300LeufsTer?
ENST00000432192.6:c.723_727del
ENST00000455478.6:c.487_491del	ENSP00000400027.2:n.487_491del
ENST00000650516.1:c.899_903del	ENSP00000498052.1:p.Arg300LeufsTer?
ENST00000343257.6:c.899_903del	ENSP00000339867.2:p.Arg300LeufsTer?
ENST00000432192.5:c.413_417del
ENST00000455478.5:c.491_495del
ENST00000495612.1:n.200_204del
NM_000083.2:c.899_903del	NP_000074.2:p.Arg300LeufsTer?
NR_046453.1:n.989_993del
XM_011515781.1:c.899_903del	XP_011514083.1:p.Arg300LeufsTer?
XM_017011739.1:c.449_453del	XP_016867228.1:p.Arg150LeufsTer?
XM_017011740.1:c.449_453del	XP_016867229.1:p.Arg150LeufsTer?
NM_000083.3:c.899_903del MANE Select	NP_000074.3:p.Arg300LeufsTer?
NR_046453.2:n.1004_1008del