Linked Data
ClinVar Variation Id:
38968
ClinVar RCV Id:
RCV001324952
dbSNP Id:
rs113993964
PubMed:
PMID:20556892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.189894305del , CM000665.2:g.189894305del | GRCh38 |
| NC_000003.11:g.189612094del , CM000665.1:g.189612094del | GRCh37 |
| NC_000003.10:g.191094788del | NCBI36 |
| NG_007550.1:g.267879del | |
| NG_007550.2:g.267879del | |
| NG_007550.3:g.302560del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264731.8:c.1846del MANE Select | ENSP00000264731.3:p.Leu616SerfsTer? | |
| ENST00000354600.10:c.1564del MANE Plus Clinical | ENSP00000346614.5:p.Leu522SerfsTer? | |
| ENST00000264731.7:c.1846del | ENSP00000264731.3:p.Leu616SerfsTer? | |
| ENST00000320472.9:c.*74del | ENSP00000317510.5:n.*74del | |
| ENST00000354600.9:c.1564del | ENSP00000346614.5:p.Leu522SerfsTer? | |
| ENST00000440651.6:c.1834del | ENSP00000394337.2:p.Leu612SerfsTer? | |
| ENST00000449992.5:c.1309del | ENSP00000387839.1:p.Leu437SerfsTer? | |
| ENST00000456148.1:c.1552del | ENSP00000389485.1:p.Leu518SerfsTer? | |
| NM_001114978.1:c.*84del | NP_001108450.1:n.*84del | |
| NM_001114980.1:c.1564del | NP_001108452.1:p.Leu522SerfsTer? | |
| NM_001114981.1:c.*84del | NP_001108453.1:n.*84del | |
| NM_003722.4:c.1846del | NP_003713.3:p.Leu616SerfsTer? | |
| XM_005247843.2:c.1834del | XP_005247900.1:p.Leu612SerfsTer? | |
| XM_005247844.3:c.1795del | XP_005247901.1:p.Leu599SerfsTer? | |
| XM_011513251.1:c.1843del | XP_011511553.1:p.Leu615SerfsTer? | |
| XM_011513252.1:c.1840del | XP_011511554.1:p.Leu614SerfsTer? | |
| XM_011513253.1:c.1807del | XP_011511555.1:p.Leu603SerfsTer? | |
| NM_001329144.1:c.*74del | NP_001316073.1:n.*74del | |
| NM_001329145.1:c.*74del | NP_001316074.1:n.*74del | |
| NM_001329146.1:c.1309del | NP_001316075.1:p.Leu437SerfsTer? | |
| NM_001329148.1:c.1834del | NP_001316077.1:p.Leu612SerfsTer? | |
| NM_001329149.1:c.*74del | NP_001316078.1:n.*74del | |
| NM_001329150.1:c.*74del | NP_001316079.1:n.*74del | |
| NM_001329964.1:c.1840del | NP_001316893.1:p.Leu614SerfsTer? | |
| NM_003722.5:c.1846del MANE Select | NP_003713.3:p.Leu616SerfsTer? | |
| NM_001114978.2:c.*84del | NP_001108450.1:n.*84del | |
| NM_001114980.2:c.1564del MANE Plus Clinical | NP_001108452.1:p.Leu522SerfsTer? | |
| NM_001114981.2:c.*84del | NP_001108453.1:n.*84del | |
| NM_001329144.2:c.*74del | NP_001316073.1:n.*74del | |
| NM_001329145.2:c.*74del | NP_001316074.1:n.*74del | |
| NM_001329146.2:c.1309del | NP_001316075.1:p.Leu437SerfsTer? | |
| NM_001329148.2:c.1834del | NP_001316077.1:p.Leu612SerfsTer? | |
| NM_001329149.2:c.*74del | NP_001316078.1:n.*74del | |
| NM_001329150.2:c.*74del | NP_001316079.1:n.*74del | |
| NM_001329964.2:c.1840del | NP_001316893.1:p.Leu614SerfsTer? |