Canonical Allele Identifier: CA1748892847

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803018870
• gnomAD v4: 7-143339454-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339455_143339456del , CM000669.2:g.143339455_143339456del	GRCh38
NC_000007.13:g.143036548_143036549del , CM000669.1:g.143036548_143036549del	GRCh37
NC_000007.12:g.142746670_142746671del	NCBI36
NG_009815.1:g.28330_28331del
NG_009815.2:g.28330_28331del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1472-56_1472-55del	ENSP00000498052.2:n.1472-56_1472-55del
ENST00000343257.7:c.1472-56_1472-55del MANE Select	ENSP00000339867.2:n.1472-56_1472-55del
ENST00000432192.6:c.1296-56_1296-55del
ENST00000343257.6:c.1472-56_1472-55del	ENSP00000339867.2:n.1472-56_1472-55del
NM_000083.2:c.1472-56_1472-55del	NP_000074.2:n.1472-56_1472-55del
NR_046453.1:n.1412-56_1412-55del
XM_011515781.1:c.1496-56_1496-55del	XP_011514083.1:n.1496-56_1496-55del
XM_011515782.1:c.218-56_218-55del	XP_011514084.1:n.218-56_218-55del
XM_011515782.2:c.218-56_218-55del	XP_011514084.1:n.218-56_218-55del
XM_017011739.1:c.1046-56_1046-55del	XP_016867228.1:n.1046-56_1046-55del
XM_017011740.1:c.1022-56_1022-55del	XP_016867229.1:n.1022-56_1022-55del
NM_000083.3:c.1472-56_1472-55del MANE Select	NP_000074.3:n.1472-56_1472-55del
NR_046453.2:n.1427-56_1427-55del