Linked Data
ClinVar Variation Id:
41469
ClinVar RCV Id:
RCV000034354
dbSNP Id:
rs398122835
PubMed:
PMID:21834035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185779del , CM000679.2:g.50185779del | GRCh38 |
| NC_000017.10:g.48263140del , CM000679.1:g.48263140del | GRCh37 |
| NC_000017.9:g.45618139del | NCBI36 |
| NG_007400.1:g.20861del , LRG_1:g.20861del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225964.10:c.4247del MANE Select | ENSP00000225964.6:p.Thr1416ArgfsTer11 | |
| ENST00000225964.9:c.4247del | ENSP00000225964.5:p.Thr1416ArgfsTer11 | |
| NM_000088.3:c.4247del , LRG_1t1:c.4247del | NP_000079.2:p.Thr1416ArgfsTer11 | |
| XM_005257058.3:c.3977del | XP_005257115.2:p.Thr1326ArgfsTer11 | |
| XM_005257059.3:c.3329del | XP_005257116.2:p.Thr1110ArgfsTer11 | |
| XM_011524341.1:c.4049del | XP_011522643.1:p.Thr1350ArgfsTer11 | |
| XM_005257058.4:c.3977del | XP_005257115.2:p.Thr1326ArgfsTer11 | |
| XM_005257059.4:c.3329del | XP_005257116.2:p.Thr1110ArgfsTer11 | |
| NM_000088.4:c.4247del MANE Select | NP_000079.2:p.Thr1416ArgfsTer11 |