Canonical Allele Identifier: CA2685378900

Gene: CLCN1

Linked Data

• dbSNP Id: rs2116865062
• gnomAD v4: 7-143339451-A-AAACAGAGAGCAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143339454_143339455insAGAGAGCAAGGAAC , CM000669.2:g.143339454_143339455insAGAGAGCAAGGAAC	GRCh38
NC_000007.13:g.143036547_143036548insAGAGAGCAAGGAAC , CM000669.1:g.143036547_143036548insAGAGAGCAAGGAAC	GRCh37
NC_000007.12:g.142746669_142746670insAGAGAGCAAGGAAC	NCBI36
NG_009815.1:g.28329_28330insAGAGAGCAAGGAAC
NG_009815.2:g.28329_28330insAGAGAGCAAGGAAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1472-57_1472-56insAGAGAGCAAGGAAC	ENSP00000498052.2:n.1472-57_1472-56insAGA...
ENST00000343257.7:c.1472-57_1472-56insAGAGAGCAAGGAAC MANE Select	ENSP00000339867.2:n.1472-57_1472-56insAGA...
ENST00000432192.6:c.1296-57_1296-56insAGAGAGCAAGGAAC
ENST00000343257.6:c.1472-57_1472-56insAGAGAGCAAGGAAC	ENSP00000339867.2:n.1472-57_1472-56insAGA...
NM_000083.2:c.1472-57_1472-56insAGAGAGCAAGGAAC	NP_000074.2:n.1472-57_1472-56insAGAGAGCAA...
NR_046453.1:n.1412-57_1412-56insAGAGAGCAAGGAAC
XM_011515781.1:c.1496-57_1496-56insAGAGAGCAAGGAAC	XP_011514083.1:n.1496-57_1496-56insAGAGAG...
XM_011515782.1:c.218-57_218-56insAGAGAGCAAGGAAC	XP_011514084.1:n.218-57_218-56insAGAGAGCA...
XM_011515782.2:c.218-57_218-56insAGAGAGCAAGGAAC	XP_011514084.1:n.218-57_218-56insAGAGAGCA...
XM_017011739.1:c.1046-57_1046-56insAGAGAGCAAGGAAC	XP_016867228.1:n.1046-57_1046-56insAGAGAG...
XM_017011740.1:c.1022-57_1022-56insAGAGAGCAAGGAAC	XP_016867229.1:n.1022-57_1022-56insAGAGAG...
NM_000083.3:c.1472-57_1472-56insAGAGAGCAAGGAAC MANE Select	NP_000074.3:n.1472-57_1472-56insAGAGAGCAA...
NR_046453.2:n.1427-57_1427-56insAGAGAGCAAGGAAC