Linked Data
dbSNP Id:
rs1696206765
gnomAD v3:
3-10144514-T-TTTTTTTG
gnomAD v4:
3-10144514-T-TTTTTTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10144514_10144515insTTTTTTG , CM000665.2:g.10144514_10144515insTTTTTTG | GRCh38 |
| NC_000003.11:g.10186198_10186199insTTTTTTG , CM000665.1:g.10186198_10186199insTTTTTTG | GRCh37 |
| NC_000003.10:g.10161198_10161199insTTTTTTG | NCBI36 |
| NG_008212.3:g.7880_7881insTTTTTTG , LRG_322:g.7880_7881insTTTTTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*17+1493_*17+1494insTTTTTTG | ENSP00000512434.1:n.*17+1493_*17+1494insTTTTTTG | |
| ENST00000696143.1:c.599+1493_599+1494insTTTTTTG | ENSP00000512435.1:n.599+1493_599+1494insTTTTTTG | |
| ENST00000696153.1:c.341-2000_341-1999insTTTTTTG | ENSP00000512444.1:n.341-2000_341-1999insTTTTTTG | |
| ENST00000256474.3:c.341-2000_341-1999insTTTTTTG MANE Select | ENSP00000256474.3:n.341-2000_341-1999insTTTTTTG | |
| ENST00000256474.2:c.341-2000_341-1999insTTTTTTG | ENSP00000256474.2:n.341-2000_341-1999insTTTTTTG | |
| ENST00000345392.2:c.340+2327_340+2328insTTTTTTG | ENSP00000344757.2:n.340+2327_340+2328insTTTTTTG | |
| ENST00000477538.1:n.476+1493_476+1494insTTTTTTG | ||
| NM_000551.3:c.341-2000_341-1999insTTTTTTG , LRG_322t1:c.341-2000_341-1999insTTTTTTG | NP_000542.1:n.341-2000_341-1999insTTTTTTG | |
| NM_198156.2:c.340+2327_340+2328insTTTTTTG | NP_937799.1:n.340+2327_340+2328insTTTTTTG | |
| XM_011534078.1:c.*17+1493_*17+1494insTTTTTTG | XP_011532380.1:n.*17+1493_*17+1494insTTTTTTG | |
| NM_001354723.1:c.*17+1493_*17+1494insTTTTTTG | NP_001341652.1:n.*17+1493_*17+1494insTTTTTTG | |
| NM_000551.4:c.341-2000_341-1999insTTTTTTG MANE Select | NP_000542.1:n.341-2000_341-1999insTTTTTTG | |
| NM_001354723.2:c.*17+1493_*17+1494insTTTTTTG | NP_001341652.1:n.*17+1493_*17+1494insTTTTTTG | |
| NM_198156.3:c.340+2327_340+2328insTTTTTTG | NP_937799.1:n.340+2327_340+2328insTTTTTTG |