Canonical Allele Identifier: CA2778230681

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321874_143321875del , CM000669.2:g.143321874_143321875del	GRCh38
NC_000007.13:g.143018967_143018968del , CM000669.1:g.143018967_143018968del	GRCh37
NC_000007.12:g.142729089_142729090del	NCBI36
NG_009815.1:g.10749_10750del
NG_009815.2:g.10749_10750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+26_696+27del	ENSP00000498052.2:n.696+26_696+27del
ENST00000343257.7:c.696+26_696+27del MANE Select	ENSP00000339867.2:n.696+26_696+27del
ENST00000432192.6:c.464+26_464+27del
ENST00000455478.6:c.150+26_150+27del	ENSP00000400027.2:n.150+26_150+27del
ENST00000650516.1:c.696+26_696+27del	ENSP00000498052.1:n.696+26_696+27del
ENST00000343257.6:c.696+26_696+27del	ENSP00000339867.2:n.696+26_696+27del
ENST00000432192.5:c.154+26_154+27del
ENST00000455478.5:c.154+26_154+27del
ENST00000495612.1:n.154+26_154+27del
NM_000083.2:c.696+26_696+27del	NP_000074.2:n.696+26_696+27del
NR_046453.1:n.783+26_783+27del
XM_011515781.1:c.696+26_696+27del	XP_011514083.1:n.696+26_696+27del
XM_017011739.1:c.403+26_403+27del	XP_016867228.1:n.403+26_403+27del
XM_017011740.1:c.403+26_403+27del	XP_016867229.1:n.403+26_403+27del
NM_000083.3:c.696+26_696+27del MANE Select	NP_000074.3:n.696+26_696+27del
NR_046453.2:n.798+26_798+27del