Canonical Allele Identifier: CA2579050645

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324427_143324429dup , CM000669.2:g.143324427_143324429dup	GRCh38
NC_000007.13:g.143021520_143021522dup , CM000669.1:g.143021520_143021522dup	GRCh37
NC_000007.12:g.142731642_142731644dup	NCBI36
NG_009815.1:g.13302_13304dup
NG_009815.2:g.13302_13304dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+530_853+532dup	ENSP00000498052.2:n.853+530_853+532dup
ENST00000343257.7:c.788_790dup MANE Select	ENSP00000339867.2:p.Tyr263_Ser264insTyr
ENST00000432192.6:c.612_614dup
ENST00000455478.6:c.376_378dup	ENSP00000400027.2:n.376_378dup
ENST00000650516.1:c.853+530_853+532dup	ENSP00000498052.1:n.853+530_853+532dup
ENST00000343257.6:c.788_790dup	ENSP00000339867.2:p.Tyr263_Ser264insTyr
ENST00000432192.5:c.302_304dup
ENST00000455478.5:c.380_382dup
ENST00000495612.1:n.154+2579_154+2581dup
NM_000083.2:c.788_790dup	NP_000074.2:p.Tyr263_Ser264insTyr
NR_046453.1:n.878_880dup
XM_011515781.1:c.853+530_853+532dup	XP_011514083.1:n.853+530_853+532dup
XM_017011739.1:c.403+2579_403+2581dup	XP_016867228.1:n.403+2579_403+2581dup
XM_017011740.1:c.403+2579_403+2581dup	XP_016867229.1:n.403+2579_403+2581dup
NM_000083.3:c.788_790dup MANE Select	NP_000074.3:p.Tyr263_Ser264insTyr
NR_046453.2:n.893_895dup