Canonical Allele Identifier: CA2778231040

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351767del , CM000669.2:g.143351767del	GRCh38
NC_000007.13:g.143048860del , CM000669.1:g.143048860del	GRCh37
NC_000007.12:g.142758982del	NCBI36
NG_009815.1:g.40642del
NG_009815.2:g.40642del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2769del	ENSP00000498052.2:p.Ile923MetfsTer25
ENST00000343257.7:c.2769del MANE Select	ENSP00000339867.2:p.Ile923MetfsTer25
ENST00000343257.6:c.2769del	ENSP00000339867.2:p.Ile923MetfsTer25
NM_000083.2:c.2769del	NP_000074.2:p.Ile923MetfsTer25
NR_046453.1:n.2709del
XM_011515781.1:c.2793del	XP_011514083.1:p.Ile931MetfsTer25
XM_011515782.1:c.1515del	XP_011514084.1:p.Ile505MetfsTer25
XM_011515782.2:c.1515del	XP_011514084.1:p.Ile505MetfsTer25
XM_017011739.1:c.2343del	XP_016867228.1:p.Ile781MetfsTer25
XM_017011740.1:c.2319del	XP_016867229.1:p.Ile773MetfsTer25
NM_000083.3:c.2769del MANE Select	NP_000074.3:p.Ile923MetfsTer25
NR_046453.2:n.2724del