Canonical Allele Identifier: CA1748888233

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321457_143321458delinsGC , CM000669.2:g.143321457_143321458delinsGC	GRCh38
NC_000007.13:g.143018550_143018551delinsGC , CM000669.1:g.143018550_143018551delinsGC	GRCh37
NC_000007.12:g.142728672_142728673delinsGC	NCBI36
NG_009815.1:g.10332_10333delinsGC
NG_009815.2:g.10332_10333delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.526_527delinsGC	ENSP00000498052.2:p.Ala176=
ENST00000343257.7:c.526_527delinsGC MANE Select	ENSP00000339867.2:p.Ala176=
ENST00000432192.6:c.294_295delinsGC
ENST00000650516.1:c.526_527delinsGC	ENSP00000498052.1:p.Ala176=
ENST00000343257.6:c.526_527delinsGC	ENSP00000339867.2:p.Ala176=
NM_000083.2:c.526_527delinsGC	NP_000074.2:p.Ala176=
NR_046453.1:n.613_614delinsGC
XM_011515781.1:c.526_527delinsGC	XP_011514083.1:p.Ala176=
XM_017011739.1:c.233_234delinsGC	XP_016867228.1:p.Arg78=
XM_017011740.1:c.233_234delinsGC	XP_016867229.1:p.Arg78=
NM_000083.3:c.526_527delinsGC MANE Select	NP_000074.3:p.Ala176=
NR_046453.2:n.628_629delinsGC