Canonical Allele Identifier: CA2685380877

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332299-TTTTTCATTTAAAGAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332301_143332316del , CM000669.2:g.143332301_143332316del	GRCh38
NC_000007.13:g.143029394_143029409del , CM000669.1:g.143029394_143029409del	GRCh37
NC_000007.12:g.142739516_142739531del	NCBI36
NG_009815.1:g.21176_21191del
NG_009815.2:g.21176_21191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1167-118_1167-103del	ENSP00000498052.2:n.1167-118_1167-103del
ENST00000343257.7:c.1167-118_1167-103del MANE Select	ENSP00000339867.2:n.1167-118_1167-103del
ENST00000432192.6:c.991-118_991-103del
ENST00000343257.6:c.1167-118_1167-103del	ENSP00000339867.2:n.1167-118_1167-103del
NM_000083.2:c.1167-118_1167-103del	NP_000074.2:n.1167-118_1167-103del
NR_046453.1:n.1257-118_1257-103del
XM_011515781.1:c.1167-118_1167-103del	XP_011514083.1:n.1167-118_1167-103del
XM_011515782.1:c.-3-423_-3-408del	XP_011514084.1:n.-3-423_-3-408del
XM_011515782.2:c.-3-423_-3-408del	XP_011514084.1:n.-3-423_-3-408del
XM_017011739.1:c.717-118_717-103del	XP_016867228.1:n.717-118_717-103del
XM_017011740.1:c.717-118_717-103del	XP_016867229.1:n.717-118_717-103del
NM_000083.3:c.1167-118_1167-103del MANE Select	NP_000074.3:n.1167-118_1167-103del
NR_046453.2:n.1272-118_1272-103del