Canonical Allele Identifier: CA2685382518

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351502-ATTGTACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351504_143351510del , CM000669.2:g.143351504_143351510del	GRCh38
NC_000007.13:g.143048597_143048603del , CM000669.1:g.143048597_143048603del	GRCh37
NC_000007.12:g.142758719_142758725del	NCBI36
NG_009815.1:g.40379_40385del
NG_009815.2:g.40379_40385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-90_2596-84del	ENSP00000498052.2:n.2596-90_2596-84del
ENST00000343257.7:c.2596-90_2596-84del MANE Select	ENSP00000339867.2:n.2596-90_2596-84del
ENST00000432192.6:c.2420-90_2420-84del
ENST00000343257.6:c.2596-90_2596-84del	ENSP00000339867.2:n.2596-90_2596-84del
NM_000083.2:c.2596-90_2596-84del	NP_000074.2:n.2596-90_2596-84del
NR_046453.1:n.2536-90_2536-84del
XM_011515781.1:c.2620-90_2620-84del	XP_011514083.1:n.2620-90_2620-84del
XM_011515782.1:c.1342-90_1342-84del	XP_011514084.1:n.1342-90_1342-84del
XM_011515782.2:c.1342-90_1342-84del	XP_011514084.1:n.1342-90_1342-84del
XM_017011739.1:c.2170-90_2170-84del	XP_016867228.1:n.2170-90_2170-84del
XM_017011740.1:c.2146-90_2146-84del	XP_016867229.1:n.2146-90_2146-84del
NM_000083.3:c.2596-90_2596-84del MANE Select	NP_000074.3:n.2596-90_2596-84del
NR_046453.2:n.2551-90_2551-84del