Canonical Allele Identifier: CA2695208581

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350569_143350572dup , CM000669.2:g.143350569_143350572dup	GRCh38
NC_000007.13:g.143047662_143047665dup , CM000669.1:g.143047662_143047665dup	GRCh37
NC_000007.12:g.142757784_142757787dup	NCBI36
NG_009815.1:g.39444_39447dup
NG_009815.2:g.39444_39447dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2510_2513dup	ENSP00000498052.2:p.Thr839SerfsTer?
ENST00000343257.7:c.2510_2513dup MANE Select	ENSP00000339867.2:p.Thr839SerfsTer?
ENST00000432192.6:c.2334_2337dup
ENST00000343257.6:c.2510_2513dup	ENSP00000339867.2:p.Thr839SerfsTer?
NM_000083.2:c.2510_2513dup	NP_000074.2:p.Thr839SerfsTer?
NR_046453.1:n.2450_2453dup
XM_011515781.1:c.2534_2537dup	XP_011514083.1:p.Thr847SerfsTer?
XM_011515782.1:c.1256_1259dup	XP_011514084.1:p.Thr421SerfsTer?
XM_011515782.2:c.1256_1259dup	XP_011514084.1:p.Thr421SerfsTer?
XM_017011739.1:c.2084_2087dup	XP_016867228.1:p.Thr697SerfsTer?
XM_017011740.1:c.2060_2063dup	XP_016867229.1:p.Thr689SerfsTer?
NM_000083.3:c.2510_2513dup MANE Select	NP_000074.3:p.Thr839SerfsTer?
NR_046453.2:n.2465_2468dup