Linked Data
dbSNP Id:
rs34512214
gnomAD v3:
3-10144496-C-CTTTTTTTTTTTTT
gnomAD v4:
3-10144496-C-CTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10144502_10144514dup , CM000665.2:g.10144502_10144514dup | GRCh38 |
| NC_000003.11:g.10186186_10186198dup , CM000665.1:g.10186186_10186198dup | GRCh37 |
| NC_000003.10:g.10161186_10161198dup | NCBI36 |
| NG_008212.3:g.7868_7880dup , LRG_322:g.7868_7880dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*17+1481_*17+1493dup | ENSP00000512434.1:n.*17+1481_*17+1493dup | |
| ENST00000696143.1:c.599+1481_599+1493dup | ENSP00000512435.1:n.599+1481_599+1493dup | |
| ENST00000696153.1:c.341-2012_341-2000dup | ENSP00000512444.1:n.341-2012_341-2000dup | |
| ENST00000256474.3:c.341-2012_341-2000dup MANE Select | ENSP00000256474.3:n.341-2012_341-2000dup | |
| ENST00000256474.2:c.341-2012_341-2000dup | ENSP00000256474.2:n.341-2012_341-2000dup | |
| ENST00000345392.2:c.340+2315_340+2327dup | ENSP00000344757.2:n.340+2315_340+2327dup | |
| ENST00000477538.1:n.476+1481_476+1493dup | ||
| NM_000551.3:c.341-2012_341-2000dup , LRG_322t1:c.341-2012_341-2000dup | NP_000542.1:n.341-2012_341-2000dup | |
| NM_198156.2:c.340+2315_340+2327dup | NP_937799.1:n.340+2315_340+2327dup | |
| XM_011534078.1:c.*17+1481_*17+1493dup | XP_011532380.1:n.*17+1481_*17+1493dup | |
| NM_001354723.1:c.*17+1481_*17+1493dup | NP_001341652.1:n.*17+1481_*17+1493dup | |
| NM_000551.4:c.341-2012_341-2000dup MANE Select | NP_000542.1:n.341-2012_341-2000dup | |
| NM_001354723.2:c.*17+1481_*17+1493dup | NP_001341652.1:n.*17+1481_*17+1493dup | |
| NM_198156.3:c.340+2315_340+2327dup | NP_937799.1:n.340+2315_340+2327dup |