Linked Data
dbSNP Id:
rs1391792000
gnomAD v2:
15-68628125-G-GC
gnomAD v3:
15-68335787-G-GC
gnomAD v4:
15-68335787-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335787_68335788insC , CM000677.2:g.68335787_68335788insC | GRCh38 |
| NC_000015.9:g.68628125_68628126insC , CM000677.1:g.68628125_68628126insC | GRCh37 |
| NC_000015.8:g.66415179_66415180insC | NCBI36 |
| NG_046911.1:g.101373_101374insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1334_1335insG MANE Select | ENSP00000327290.7:p.Arg447ProfsTer? | |
| ENST00000315757.8:c.1334_1335insG | ENSP00000327290.7:p.Arg447ProfsTer? | |
| ENST00000423218.6:c.1334_1335insG | ENSP00000403392.2:p.Arg447ProfsTer? | |
| ENST00000566429.1:n.223_224insG | ||
| ENST00000569346.5:n.313_314insG | ||
| NM_001004439.1:c.1334_1335insG | NP_001004439.1:p.Arg447ProfsTer? | |
| XM_005254228.2:c.1028_1029insG | XP_005254285.1:p.Arg345ProfsTer? | |
| XM_011521363.1:c.1127_1128insG | XP_011519665.1:p.Arg378ProfsTer? | |
| XM_005254228.3:c.1028_1029insG | XP_005254285.1:p.Arg345ProfsTer? | |
| XM_011521363.2:c.1127_1128insG | XP_011519665.1:p.Arg378ProfsTer? | |
| NM_001004439.2:c.1334_1335insG MANE Select | NP_001004439.1:p.Arg447ProfsTer? |