Linked Data
ClinVar Variation Id:
447048
dbSNP Id:
rs763633152
ExAC:
7:143029822 G / GC
gnomAD v2:
7-143029822-G-GC
gnomAD v3:
7-143332729-G-GC
gnomAD v4:
7-143332729-G-GC
MyVariant Identifiers:
chr7:g.143029826dup (hg19)
chr7:g.143029822_143029823insC (hg19)
chr7:g.143332733dup (hg38)
chr7:g.143332729_143332730insC (hg38)
PubMed:
PMID:8533761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332733dup , CM000669.2:g.143332733dup | GRCh38 |
| NC_000007.13:g.143029826dup , CM000669.1:g.143029826dup | GRCh37 |
| NC_000007.12:g.142739948dup | NCBI36 |
| NG_009815.1:g.21608dup | |
| NG_009815.2:g.21608dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1261dup | ENSP00000498052.2:p.Arg421ProfsTer9 | |
| ENST00000343257.7:c.1261dup MANE Select | ENSP00000339867.2:p.Arg421ProfsTer9 | |
| ENST00000432192.6:c.1085dup | ||
| ENST00000343257.6:c.1261dup | ENSP00000339867.2:p.Arg421ProfsTer9 | |
| NM_000083.2:c.1261dup | NP_000074.2:p.Arg421ProfsTer9 | |
| NR_046453.1:n.1341+230dup | ||
| XM_011515781.1:c.1285dup | XP_011514083.1:p.Arg429ProfsTer9 | |
| XM_011515782.1:c.7dup | XP_011514084.1:p.Arg3ProfsTer9 | |
| XM_011515782.2:c.7dup | XP_011514084.1:p.Arg3ProfsTer9 | |
| XM_017011739.1:c.835dup | XP_016867228.1:p.Arg279ProfsTer9 | |
| XM_017011740.1:c.811dup | XP_016867229.1:p.Arg271ProfsTer9 | |
| NM_000083.3:c.1261dup MANE Select | NP_000074.3:p.Arg421ProfsTer9 | |
| NR_046453.2:n.1356+230dup |