Canonical Allele Identifier: CA2778231036

Gene: CLCN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351495del , CM000669.2:g.143351495del	GRCh38
NC_000007.13:g.143048588del , CM000669.1:g.143048588del	GRCh37
NC_000007.12:g.142758710del	NCBI36
NG_009815.1:g.40370del
NG_009815.2:g.40370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-99del	ENSP00000498052.2:n.2596-99del
ENST00000343257.7:c.2596-99del MANE Select	ENSP00000339867.2:n.2596-99del
ENST00000432192.6:c.2420-99del
ENST00000343257.6:c.2596-99del	ENSP00000339867.2:n.2596-99del
NM_000083.2:c.2596-99del	NP_000074.2:n.2596-99del
NR_046453.1:n.2536-99del
XM_011515781.1:c.2620-99del	XP_011514083.1:n.2620-99del
XM_011515782.1:c.1342-99del	XP_011514084.1:n.1342-99del
XM_011515782.2:c.1342-99del	XP_011514084.1:n.1342-99del
XM_017011739.1:c.2170-99del	XP_016867228.1:n.2170-99del
XM_017011740.1:c.2146-99del	XP_016867229.1:n.2146-99del
NM_000083.3:c.2596-99del MANE Select	NP_000074.3:n.2596-99del
NR_046453.2:n.2551-99del