Canonical Allele Identifier: CA834507135

Gene: CLCN1

Linked Data

• dbSNP Id: rs1379796677
• gnomAD v3: 7-143321707-GCTTTTAGGCT-G
• gnomAD v4: 7-143321707-GCTTTTAGGCT-G
• MyVariant Identifiers: chr7:g.143018801_143018810del (hg19) ; chr7:g.143321708_143321717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321710_143321719del , CM000669.2:g.143321710_143321719del	GRCh38
NC_000007.13:g.143018803_143018812del , CM000669.1:g.143018803_143018812del	GRCh37
NC_000007.12:g.142728925_142728934del	NCBI36
NG_009815.1:g.10585_10594del
NG_009815.2:g.10585_10594del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.563-5_567del
ENST00000343257.7:c.563-5_567del
ENST00000432192.6:c.331-5_335del
ENST00000455478.6:c.17-5_21del
ENST00000650516.1:c.563-5_567del
ENST00000343257.6:c.563-5_567del
ENST00000432192.5:c.21-5_25del
ENST00000455478.5:c.21-5_25del
ENST00000495612.1:n.21-5_25del
NM_000083.2:c.563-5_567del
NR_046453.1:n.650-5_654del
XM_011515781.1:c.563-5_567del
XM_017011739.1:c.270-5_274del
XM_017011740.1:c.270-5_274del
NM_000083.3:c.563-5_567del
NR_046453.2:n.665-5_669del