Linked Data
dbSNP Id:
rs1243503510
gnomAD v2:
15-91354602-AG-A
gnomAD v3:
15-90811372-AG-A
gnomAD v4:
15-90811372-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811373del , CM000677.2:g.90811373del | GRCh38 |
| NC_000015.9:g.91354603del , CM000677.1:g.91354603del | GRCh37 |
| NC_000015.8:g.89155607del | NCBI36 |
| NG_007272.1:g.99002del , LRG_20:g.99002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.4043del MANE Select | ENSP00000347232.3:p.Arg1348LysfsTer? | |
| ENST00000560559.2:n.2616del | ||
| ENST00000648453.1:c.4043del | ENSP00000497646.1:p.Arg1348LysfsTer? | |
| ENST00000680772.1:c.4043del | ENSP00000506117.1:p.Arg1348LysfsTer? | |
| ENST00000681142.1:c.4043del | ENSP00000506682.1:p.Arg1348LysfsTer29 | |
| ENST00000355112.7:c.4043del | ENSP00000347232.3:p.Arg1348LysfsTer? | |
| ENST00000558825.5:n.1390del | ||
| ENST00000559724.5:c.*2967del | ENSP00000453359.1:n.*2967del | |
| ENST00000560509.5:c.3650del | ENSP00000454158.1:p.Arg1217LysfsTer? | |
| ENST00000560821.1:n.463del | ||
| NM_000057.3:c.4043del | NP_000048.1:p.Arg1348LysfsTer? | |
| NM_001287246.1:c.4043del | NP_001274175.1:p.Arg1348LysfsTer? | |
| NM_001287247.1:c.3650del | NP_001274176.1:p.Arg1217LysfsTer? | |
| NM_001287248.1:c.2918del | NP_001274177.1:p.Arg973LysfsTer? | |
| XM_006720632.2:c.2081del | XP_006720695.1:p.Arg694LysfsTer? | |
| XM_011521881.1:c.2729del | XP_011520183.1:p.Arg910LysfsTer? | |
| XM_011521881.2:c.2729del | XP_011520183.1:p.Arg910LysfsTer? | |
| NM_000057.4:c.4043del MANE Select | NP_000048.1:p.Arg1348LysfsTer? | |
| NM_001287246.2:c.4043del | NP_001274175.1:p.Arg1348LysfsTer? | |
| NM_001287247.2:c.3650del | NP_001274176.1:p.Arg1217LysfsTer? | |
| NM_001287248.2:c.2918del | NP_001274177.1:p.Arg973LysfsTer? |