Canonical Allele Identifier: CA2579050729

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143331521del , CM000669.2:g.143331521del	GRCh38
NC_000007.13:g.143028614del , CM000669.1:g.143028614del	GRCh37
NC_000007.12:g.142738736del	NCBI36
NG_009815.1:g.20396del
NG_009815.2:g.20396del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1065-30del	ENSP00000498052.2:n.1065-30del
ENST00000343257.7:c.1065-30del MANE Select	ENSP00000339867.2:n.1065-30del
ENST00000432192.6:c.889-30del
ENST00000343257.6:c.1065-30del	ENSP00000339867.2:n.1065-30del
NM_000083.2:c.1065-30del	NP_000074.2:n.1065-30del
NR_046453.1:n.1155-30del
XM_011515781.1:c.1065-30del	XP_011514083.1:n.1065-30del
XM_017011739.1:c.615-30del	XP_016867228.1:n.615-30del
XM_017011740.1:c.615-30del	XP_016867229.1:n.615-30del
NM_000083.3:c.1065-30del MANE Select	NP_000074.3:n.1065-30del
NR_046453.2:n.1170-30del