Canonical Allele Identifier: CA4537784

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351787del , CM000669.2:g.143351787del	GRCh38
NC_000007.13:g.143048880del , CM000669.1:g.143048880del	GRCh37
NC_000007.12:g.142759002del	NCBI36
NG_009815.1:g.40662del
NG_009815.2:g.40662del

Transcript Alleles

HGVS	Amino-acid Change
NM_000083.3:c.2789del MANE Select	NP_000074.3:p.Pro930LeufsTer18
ENST00000343257.7:c.2789del MANE Select	ENSP00000339867.2:p.Pro930LeufsTer18
NM_000083.2:c.2789del	NP_000074.2:p.Pro930LeufsTer18
NR_046453.1:n.2729del
NR_046453.2:n.2744del
ENST00000343257.6:c.2789del	ENSP00000339867.2:p.Pro930LeufsTer18
ENST00000650516.2:c.2789del	ENSP00000498052.2:p.Pro930LeufsTer18
XM_011515781.1:c.2813del	XP_011514083.1:p.Pro938LeufsTer18
XM_011515782.1:c.1535del	XP_011514084.1:p.Pro512LeufsTer18
XM_011515782.2:c.1535del	XP_011514084.1:p.Pro512LeufsTer18
XM_017011739.1:c.2363del	XP_016867228.1:p.Pro788LeufsTer18
XM_017011740.1:c.2339del	XP_016867229.1:p.Pro780LeufsTer18