Canonical Allele Identifier: CA1748888101

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321398_143321399delinsGC , CM000669.2:g.143321398_143321399delinsGC	GRCh38
NC_000007.13:g.143018491_143018492delinsGC , CM000669.1:g.143018491_143018492delinsGC	GRCh37
NC_000007.12:g.142728613_142728614delinsGC	NCBI36
NG_009815.1:g.10273_10274delinsGC
NG_009815.2:g.10273_10274delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.467_468delinsGC	ENSP00000498052.2:p.Ser156=
ENST00000343257.7:c.467_468delinsGC MANE Select	ENSP00000339867.2:p.Ser156=
ENST00000432192.6:c.235_236delinsGC
ENST00000650516.1:c.467_468delinsGC	ENSP00000498052.1:p.Ser156=
ENST00000343257.6:c.467_468delinsGC	ENSP00000339867.2:p.Ser156=
NM_000083.2:c.467_468delinsGC	NP_000074.2:p.Ser156=
NR_046453.1:n.554_555delinsGC
XM_011515781.1:c.467_468delinsGC	XP_011514083.1:p.Ser156=
XM_017011739.1:c.174_175delinsGC	XP_016867228.1:p.Gln58=
XM_017011740.1:c.174_175delinsGC	XP_016867229.1:p.Gln58=
NM_000083.3:c.467_468delinsGC MANE Select	NP_000074.3:p.Ser156=
NR_046453.2:n.569_570delinsGC