Canonical Allele Identifier: CA2685382583
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143351553-TCCAAC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351554_143351558del , CM000669.2:g.143351554_143351558del GRCh38
NC_000007.13:g.143048647_143048651del , CM000669.1:g.143048647_143048651del GRCh37
NC_000007.12:g.142758769_142758773del NCBI36
NG_009815.1:g.40429_40433del
NG_009815.2:g.40429_40433del

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.2596-40_2596-36del ENSP00000498052.2:n.2596-40_2596-36del
ENST00000343257.7:c.2596-40_2596-36del MANE Select ENSP00000339867.2:n.2596-40_2596-36del
ENST00000432192.6:c.2420-40_2420-36del
ENST00000343257.6:c.2596-40_2596-36del ENSP00000339867.2:n.2596-40_2596-36del
NM_000083.2:c.2596-40_2596-36del NP_000074.2:n.2596-40_2596-36del
NR_046453.1:n.2536-40_2536-36del
XM_011515781.1:c.2620-40_2620-36del XP_011514083.1:n.2620-40_2620-36del
XM_011515782.1:c.1342-40_1342-36del XP_011514084.1:n.1342-40_1342-36del
XM_011515782.2:c.1342-40_1342-36del XP_011514084.1:n.1342-40_1342-36del
XM_017011739.1:c.2170-40_2170-36del XP_016867228.1:n.2170-40_2170-36del
XM_017011740.1:c.2146-40_2146-36del XP_016867229.1:n.2146-40_2146-36del
NM_000083.3:c.2596-40_2596-36del MANE Select NP_000074.3:n.2596-40_2596-36del
NR_046453.2:n.2551-40_2551-36del
Search 100 bp 5'
Search 100 bp 3'