Canonical Allele Identifier: CA2513301996

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351523_143351524del , CM000669.2:g.143351523_143351524del	GRCh38
NC_000007.13:g.143048616_143048617del , CM000669.1:g.143048616_143048617del	GRCh37
NC_000007.12:g.142758738_142758739del	NCBI36
NG_009815.1:g.40398_40399del
NG_009815.2:g.40398_40399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-71_2596-70del	ENSP00000498052.2:n.2596-71_2596-70del
ENST00000343257.7:c.2596-71_2596-70del MANE Select	ENSP00000339867.2:n.2596-71_2596-70del
ENST00000432192.6:c.2420-71_2420-70del
ENST00000343257.6:c.2596-71_2596-70del	ENSP00000339867.2:n.2596-71_2596-70del
NM_000083.2:c.2596-71_2596-70del	NP_000074.2:n.2596-71_2596-70del
NR_046453.1:n.2536-71_2536-70del
XM_011515781.1:c.2620-71_2620-70del	XP_011514083.1:n.2620-71_2620-70del
XM_011515782.1:c.1342-71_1342-70del	XP_011514084.1:n.1342-71_1342-70del
XM_011515782.2:c.1342-71_1342-70del	XP_011514084.1:n.1342-71_1342-70del
XM_017011739.1:c.2170-71_2170-70del	XP_016867228.1:n.2170-71_2170-70del
XM_017011740.1:c.2146-71_2146-70del	XP_016867229.1:n.2146-71_2146-70del
NM_000083.3:c.2596-71_2596-70del MANE Select	NP_000074.3:n.2596-71_2596-70del
NR_046453.2:n.2551-71_2551-70del