UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
43245
dbSNP Id:
rs111033259
MyVariant Identifiers:
chr11:g.76909642_76909649delinsCA (hg19)
chr11:g.77198597_77198604delinsCA (hg38)
PubMed:
PMID:16963483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77198597_77198604delinsCA , CM000673.2:g.77198597_77198604delinsCA | GRCh38 |
| NC_000011.9:g.76909642_76909649delinsCA , CM000673.1:g.76909642_76909649delinsCA | GRCh37 |
| NC_000011.8:g.76587290_76587297delinsCA | NCBI36 |
| NG_009086.1:g.75333_75340delinsCA | |
| NG_009086.2:g.75352_75359delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409709.9:c.4544_4551delinsCA MANE Select | ENSP00000386331.3:p.Glu1515_Met1517delins... | |
| ENST00000670577.1:c.2385_2392delinsCA | ||
| ENST00000409619.6:c.4511_4518delinsCA | ENSP00000386635.2:p.Glu1504_Met1506delins... | |
| ENST00000409709.7:c.4544_4551delinsCA | ENSP00000386331.3:p.Glu1515_Met1517delins... | |
| ENST00000458169.2:c.2087_2094delinsCA | ENSP00000417017.2:p.Glu696_Met698delinsAl... | |
| ENST00000458637.6:c.4544_4551delinsCA | ENSP00000392185.2:p.Glu1515_Met1517delins... | |
| ENST00000481328.7:n.2197_2204delinsCA | ||
| NM_000260.3:c.4544_4551delinsCA | NP_000251.3:p.Glu1515_Met1517delinsAla | |
| NM_001127180.1:c.4544_4551delinsCA | NP_001120652.1:p.Glu1515_Met1517delinsAla... | |
| XM_005274012.2:c.4544_4551delinsCA | XP_005274069.1:p.Glu1515_Met1517delinsAla... | |
| XM_006718558.2:c.4652_4659delinsCA | XP_006718621.1:p.Glu1551_Met1553delinsAla... | |
| XM_006718559.2:c.4544_4551delinsCA | XP_006718622.1:p.Glu1515_Met1517delinsAla... | |
| XM_006718560.2:c.4544_4551delinsCA | XP_006718623.1:p.Glu1515_Met1517delinsAla... | |
| XM_006718561.2:c.4544_4551delinsCA | XP_006718624.1:p.Glu1515_Met1517delinsAla... | |
| XM_011545044.1:c.4544_4551delinsCA | XP_011543346.1:p.Glu1515_Met1517delinsAla... | |
| XM_011545045.1:c.4652_4659delinsCA | XP_011543347.1:p.Glu1551_Met1553delinsAla... | |
| XM_011545046.1:c.4511_4518delinsCA | XP_011543348.1:p.Glu1504_Met1506delinsAla... | |
| XM_011545047.1:c.4562_4569delinsCA | XP_011543349.1:p.Glu1521_Met1523delinsAla... | |
| XM_011545048.1:c.4433_4440delinsCA | XP_011543350.1:p.Glu1478_Met1480delinsAla... | |
| XM_011545049.1:c.4421_4428delinsCA | XP_011543351.1:p.Glu1474_Met1476delinsAla... | |
| XM_011545050.1:c.4394_4401delinsCA | XP_011543352.1:p.Glu1465_Met1467delinsAla... | |
| XM_011545051.1:c.4544_4551delinsCA | XP_011543353.1:p.Glu1515_Met1517delinsAla... | |
| XM_011545052.1:c.4544_4551delinsCA | XP_011543354.1:p.Glu1515_Met1517delinsAla... | |
| XR_949938.1:n.4864_4871delinsCA | ||
| XR_949941.1:n.4864_4871delinsCA | ||
| XR_949942.1:n.4866_4873delinsCA | ||
| XM_011545044.2:c.4544_4551delinsCA | XP_011543346.1:p.Glu1515_Met1517delinsAla... | |
| XM_011545046.2:c.4634_4641delinsCA | XP_011543348.2:p.Glu1545_Met1547delinsAla... | |
| XM_011545050.2:c.4394_4401delinsCA | XP_011543352.1:p.Glu1465_Met1467delinsAla... | |
| XM_017017778.1:c.4742_4749delinsCA | XP_016873267.1:p.Glu1581_Met1583delinsAla... | |
| XM_017017779.1:c.4742_4749delinsCA | XP_016873268.1:p.Glu1581_Met1583delinsAla... | |
| XM_017017780.1:c.4634_4641delinsCA | XP_016873269.1:p.Glu1545_Met1547delinsAla... | |
| XM_017017781.1:c.4652_4659delinsCA | XP_016873270.1:p.Glu1551_Met1553delinsAla... | |
| XM_017017782.1:c.4634_4641delinsCA | XP_016873271.1:p.Glu1545_Met1547delinsAla... | |
| XM_017017783.1:c.4634_4641delinsCA | XP_016873272.1:p.Glu1545_Met1547delinsAla... | |
| XM_017017784.1:c.4634_4641delinsCA | XP_016873273.1:p.Glu1545_Met1547delinsAla... | |
| XM_017017785.1:c.4511_4518delinsCA | XP_016873274.1:p.Glu1504_Met1506delinsAla... | |
| XM_017017786.1:c.4634_4641delinsCA | XP_016873275.1:p.Glu1545_Met1547delinsAla... | |
| XM_017017788.1:c.4634_4641delinsCA | XP_016873277.1:p.Glu1545_Met1547delinsAla... | |
| XR_001747885.1:n.4649_4656delinsCA | ||
| XR_001747886.1:n.4649_4656delinsCA | ||
| XR_001747887.1:n.4649_4656delinsCA | ||
| XR_001747888.1:n.4649_4656delinsCA | ||
| NM_000260.4:c.4544_4551delinsCA MANE Select | NP_000251.3:p.Glu1515_Met1517delinsAla | |
| NM_001127180.2:c.4544_4551delinsCA | NP_001120652.1:p.Glu1515_Met1517delinsAla... | |
| NM_001369365.1:c.4511_4518delinsCA | NP_001356294.1:p.Glu1504_Met1506delinsAla... |