Canonical Allele Identifier: CA1108133592

Gene: CLCN1

Linked Data

• dbSNP Id: rs2064748639
• gnomAD v3: 7-143351563-TA-T
• gnomAD v4: 7-143351563-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351564del , CM000669.2:g.143351564del	GRCh38
NC_000007.13:g.143048657del , CM000669.1:g.143048657del	GRCh37
NC_000007.12:g.142758779del	NCBI36
NG_009815.1:g.40439del
NG_009815.2:g.40439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-30del	ENSP00000498052.2:n.2596-30del
ENST00000343257.7:c.2596-30del MANE Select	ENSP00000339867.2:n.2596-30del
ENST00000432192.6:c.2420-30del
ENST00000343257.6:c.2596-30del	ENSP00000339867.2:n.2596-30del
NM_000083.2:c.2596-30del	NP_000074.2:n.2596-30del
NR_046453.1:n.2536-30del
XM_011515781.1:c.2620-30del	XP_011514083.1:n.2620-30del
XM_011515782.1:c.1342-30del	XP_011514084.1:n.1342-30del
XM_011515782.2:c.1342-30del	XP_011514084.1:n.1342-30del
XM_017011739.1:c.2170-30del	XP_016867228.1:n.2170-30del
XM_017011740.1:c.2146-30del	XP_016867229.1:n.2146-30del
NM_000083.3:c.2596-30del MANE Select	NP_000074.3:n.2596-30del
NR_046453.2:n.2551-30del