Linked Data
ClinVar Variation Id:
52748
ClinVar RCV Id:
RCV000114046
dbSNP Id:
rs80359748
PubMed:
PMID:11802209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379895_32379896del , CM000675.2:g.32379895_32379896del | GRCh38 |
| NC_000013.10:g.32954032_32954033del , CM000675.1:g.32954032_32954033del | GRCh37 |
| NC_000013.9:g.31852032_31852033del | NCBI36 |
| NG_012772.3:g.69416_69417del , LRG_293:g.69416_69417del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.9099_9100del | ENSP00000434898.2:p.Gln3034ValfsTer9 | |
| ENST00000528762.2:c.*466_*467del | ENSP00000433168.2:n.*466_*467del | |
| ENST00000530893.7:c.8730_8731del | ENSP00000499438.2:p.Gln2911ValfsTer9 | |
| ENST00000665585.2:c.*661_*662del | ENSP00000499570.2:n.*661_*662del | |
| ENST00000666593.2:c.9099_9100del | ENSP00000499256.2:p.Gln3034ValfsTer9 | |
| ENST00000700202.2:c.9048_9049del | ENSP00000514856.2:p.Gln3017ValfsTer9 | |
| ENST00000700202.1:c.1515_1516del | ENSP00000514856.1:p.Gln506ValfsTer9 | |
| ENST00000700203.1:n.1226_1227del | ||
| ENST00000380152.8:c.9099_9100del MANE Select | ENSP00000369497.3:p.Gln3034ValfsTer9 | |
| ENST00000544455.6:c.9099_9100del | ENSP00000439902.1:p.Gln3034ValfsTer9 | |
| ENST00000614259.2:c.9107_9108del | ENSP00000506251.1:n.9107_9108del | |
| ENST00000665585.1:c.1977_1978del | ||
| ENST00000680887.1:c.9099_9100del | ENSP00000505508.1:p.Gln3034ValfsTer9 | |
| ENST00000380152.7:c.9099_9100del | ENSP00000369497.3:p.Gln3034ValfsTer9 | |
| ENST00000470094.1:c.56_57del | ||
| ENST00000544455.5:c.9099_9100del | ENSP00000439902.1:p.Gln3034ValfsTer9 | |
| NM_000059.3:c.9099_9100del , LRG_293t1:c.9099_9100del | NP_000050.2:p.Gln3034ValfsTer9 | |
| XM_011535203.1:c.9099_9100del | XP_011533505.1:p.Gln3034ValfsTer9 | |
| XM_011535204.1:c.9003_9004del | XP_011533506.1:p.Gln3002ValfsTer9 | |
| NM_000059.4:c.9099_9100del MANE Select | NP_000050.3:p.Gln3034ValfsTer9 |