Canonical Allele Identifier: CA1748884299

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324504_143324505delinsAC , CM000669.2:g.143324504_143324505delinsAC	GRCh38
NC_000007.13:g.143021597_143021598delinsAC , CM000669.1:g.143021597_143021598delinsAC	GRCh37
NC_000007.12:g.142731719_142731720delinsAC	NCBI36
NG_009815.1:g.13379_13380delinsAC
NG_009815.2:g.13379_13380delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+607_853+608delinsAC	ENSP00000498052.2:n.853+607_853+608delinsAC
ENST00000343257.7:c.853+12_853+13delinsAC MANE Select	ENSP00000339867.2:n.853+12_853+13delinsAC
ENST00000432192.6:c.677+12_677+13delinsAC
ENST00000455478.6:c.441+12_441+13delinsAC	ENSP00000400027.2:n.441+12_441+13delinsAC
ENST00000650516.1:c.853+607_853+608delinsAC	ENSP00000498052.1:n.853+607_853+608delinsAC
ENST00000343257.6:c.853+12_853+13delinsAC	ENSP00000339867.2:n.853+12_853+13delinsAC
ENST00000432192.5:c.367+12_367+13delinsAC
ENST00000455478.5:c.445+12_445+13delinsAC
ENST00000495612.1:n.154+2656_154+2657delinsAC
NM_000083.2:c.853+12_853+13delinsAC	NP_000074.2:n.853+12_853+13delinsAC
NR_046453.1:n.943+12_943+13delinsAC
XM_011515781.1:c.853+607_853+608delinsAC	XP_011514083.1:n.853+607_853+608delinsAC
XM_017011739.1:c.403+2656_403+2657delinsAC	XP_016867228.1:n.403+2656_403+2657delinsAC
XM_017011740.1:c.403+2656_403+2657delinsAC	XP_016867229.1:n.403+2656_403+2657delinsAC
NM_000083.3:c.853+12_853+13delinsAC MANE Select	NP_000074.3:n.853+12_853+13delinsAC
NR_046453.2:n.958+12_958+13delinsAC