Canonical Allele Identifier: CA2695208608

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330775del , CM000669.2:g.143330775del	GRCh38
NC_000007.13:g.143027868del , CM000669.1:g.143027868del	GRCh37
NC_000007.12:g.142737990del	NCBI36
NG_009815.1:g.19650del
NG_009815.2:g.19650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.857del	ENSP00000498052.2:p.Val286GlyfsTer?
ENST00000343257.7:c.857del MANE Select	ENSP00000339867.2:p.Val286GlyfsTer?
ENST00000432192.6:c.681del
ENST00000455478.6:c.445del	ENSP00000400027.2:n.445del
ENST00000650516.1:c.857del	ENSP00000498052.1:p.Val286GlyfsTer?
ENST00000343257.6:c.857del	ENSP00000339867.2:p.Val286GlyfsTer?
ENST00000432192.5:c.371del
ENST00000455478.5:c.449del
ENST00000495612.1:n.158del
NM_000083.2:c.857del	NP_000074.2:p.Val286GlyfsTer?
NR_046453.1:n.947del
XM_011515781.1:c.857del	XP_011514083.1:p.Val286GlyfsTer?
XM_017011739.1:c.407del	XP_016867228.1:p.Val136GlyfsTer?
XM_017011740.1:c.407del	XP_016867229.1:p.Val136GlyfsTer?
NM_000083.3:c.857del MANE Select	NP_000074.3:p.Val286GlyfsTer?
NR_046453.2:n.962del