Linked Data
ClinVar Variation Id:
60562
ClinVar RCV Id:
RCV000054450
dbSNP Id:
rs113944762
gnomAD v2:
9-407032-AC-A
gnomAD v3:
9-407032-AC-A
gnomAD v4:
9-407032-AC-A
PubMed:
PMID:19776401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.407033del , CM000671.2:g.407033del | GRCh38 |
| NC_000009.11:g.407033del , CM000671.1:g.407033del | GRCh37 |
| NC_000009.10:g.397033del | NCBI36 |
| NG_017007.1:g.197169del , LRG_196:g.197169del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382329.2:c.3194del | ENSP00000371766.2:p.Thr1065LysfsTer29 | |
| ENST00000683406.1:n.15del | ||
| ENST00000685949.1:n.2282del | ||
| ENST00000432829.7:c.3494del MANE Select | ENSP00000394888.3:p.Thr1165LysfsTer29 | |
| ENST00000382329.1:c.1895del | ENSP00000371766.1:p.Thr632LysfsTer29 | |
| ENST00000432829.6:c.3494del | ENSP00000394888.3:p.Thr1165LysfsTer29 | |
| ENST00000453981.5:c.3290del | ENSP00000408464.2:p.Thr1097LysfsTer29 | |
| ENST00000469391.5:c.3194del | ENSP00000419438.1:p.Thr1065LysfsTer29 | |
| ENST00000495184.5:n.5449del | ||
| NM_001190458.1:c.3194del | NP_001177387.1:p.Thr1065LysfsTer29 | |
| NM_001193536.1:c.3290del | NP_001180465.1:p.Thr1097LysfsTer29 | |
| NM_203447.3:c.3494del , LRG_196t1:c.3494del | NP_982272.2:p.Thr1165LysfsTer29 | |
| XM_011518045.1:c.3194del | XP_011516347.1:p.Thr1065LysfsTer29 | |
| XM_011518046.1:c.3356del | XP_011516348.1:p.Thr1119LysfsTer29 | |
| XM_011518047.1:c.3290del | XP_011516349.1:p.Thr1097LysfsTer29 | |
| XM_011518048.1:c.3290del | XP_011516350.1:p.Thr1097LysfsTer29 | |
| XM_011518049.1:c.1730del | XP_011516351.1:p.Thr577LysfsTer29 | |
| XM_011518045.3:c.3194del | XP_011516347.1:p.Thr1065LysfsTer29 | |
| XM_011518046.2:c.3356del | XP_011516348.1:p.Thr1119LysfsTer29 | |
| XM_011518047.3:c.3290del | XP_011516349.1:p.Thr1097LysfsTer29 | |
| XM_011518048.2:c.3290del | XP_011516350.1:p.Thr1097LysfsTer29 | |
| XM_011518049.2:c.1730del | XP_011516351.1:p.Thr577LysfsTer29 | |
| XM_017015173.1:c.3290del | XP_016870662.1:p.Thr1097LysfsTer29 | |
| XM_017015174.1:c.3356del | XP_016870663.1:p.Thr1119LysfsTer29 | |
| NM_001190458.2:c.3194del | NP_001177387.1:p.Thr1065LysfsTer29 | |
| NM_001193536.2:c.3290del | NP_001180465.1:p.Thr1097LysfsTer29 | |
| NM_203447.4:c.3494del MANE Select | NP_982272.2:p.Thr1165LysfsTer29 |