Linked Data
dbSNP Id:
rs1208320811
gnomAD v2:
3-10188141-G-GGCCACCGTGCCCA
gnomAD v3:
3-10146457-G-GGCCACCGTGCCCA
gnomAD v4:
3-10146457-G-GGCCACCGTGCCCA
MyVariant Identifiers:
chr3:g.10188141_10188142insGCCACCGTGCCCA (hg19)
chr3:g.10146457_10146458insGCCACCGTGCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146465_10146477dup , CM000665.2:g.10146465_10146477dup | GRCh38 |
| NC_000003.11:g.10188149_10188161dup , CM000665.1:g.10188149_10188161dup | GRCh37 |
| NC_000003.10:g.10163149_10163161dup | NCBI36 |
| NG_008212.3:g.9831_9843dup , LRG_322:g.9831_9843dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*18-49_*18-37dup | ENSP00000512434.1:n.*18-49_*18-37dup | |
| ENST00000696143.1:c.600-3322_600-3310dup | ENSP00000512435.1:n.600-3322_600-3310dup | |
| ENST00000696153.1:c.341-49_341-37dup | ENSP00000512444.1:n.341-49_341-37dup | |
| ENST00000256474.3:c.341-49_341-37dup MANE Select | ENSP00000256474.3:n.341-49_341-37dup | |
| ENST00000256474.2:c.341-49_341-37dup | ENSP00000256474.2:n.341-49_341-37dup | |
| ENST00000345392.2:c.341-3322_341-3310dup | ENSP00000344757.2:n.341-3322_341-3310dup | |
| ENST00000477538.1:n.477-49_477-37dup | ||
| NM_000551.3:c.341-49_341-37dup , LRG_322t1:c.341-49_341-37dup | NP_000542.1:n.341-49_341-37dup | |
| NM_198156.2:c.341-3322_341-3310dup | NP_937799.1:n.341-3322_341-3310dup | |
| XM_011534078.1:c.*18-49_*18-37dup | XP_011532380.1:n.*18-49_*18-37dup | |
| NM_001354723.1:c.*18-3322_*18-3310dup | NP_001341652.1:n.*18-3322_*18-3310dup | |
| NM_000551.4:c.341-49_341-37dup MANE Select | NP_000542.1:n.341-49_341-37dup | |
| NM_001354723.2:c.*18-3322_*18-3310dup | NP_001341652.1:n.*18-3322_*18-3310dup | |
| NM_198156.3:c.341-3322_341-3310dup | NP_937799.1:n.341-3322_341-3310dup |