Canonical Allele Identifier: CA2579050637

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324384_143324385del , CM000669.2:g.143324384_143324385del	GRCh38
NC_000007.13:g.143021477_143021478del , CM000669.1:g.143021477_143021478del	GRCh37
NC_000007.12:g.142731599_142731600del	NCBI36
NG_009815.1:g.13259_13260del
NG_009815.2:g.13259_13260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+487_853+488del	ENSP00000498052.2:n.853+487_853+488del
ENST00000343257.7:c.775-30_775-29del MANE Select	ENSP00000339867.2:n.775-30_775-29del
ENST00000432192.6:c.599-30_599-29del
ENST00000455478.6:c.363-30_363-29del	ENSP00000400027.2:n.363-30_363-29del
ENST00000650516.1:c.853+487_853+488del	ENSP00000498052.1:n.853+487_853+488del
ENST00000343257.6:c.775-30_775-29del	ENSP00000339867.2:n.775-30_775-29del
ENST00000432192.5:c.289-30_289-29del
ENST00000455478.5:c.367-30_367-29del
ENST00000495612.1:n.154+2536_154+2537del
NM_000083.2:c.775-30_775-29del	NP_000074.2:n.775-30_775-29del
NR_046453.1:n.862-27_862-26del
XM_011515781.1:c.853+487_853+488del	XP_011514083.1:n.853+487_853+488del
XM_017011739.1:c.403+2536_403+2537del	XP_016867228.1:n.403+2536_403+2537del
XM_017011740.1:c.403+2536_403+2537del	XP_016867229.1:n.403+2536_403+2537del
NM_000083.3:c.775-30_775-29del MANE Select	NP_000074.3:n.775-30_775-29del
NR_046453.2:n.877-27_877-26del