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:
1066928
dbSNP Id:
rs771928911
ExAC:
7:6026385 TTTACC / T
gnomAD v3:
7-5986754-TTTACC-T
gnomAD v4:
7-5986754-TTTACC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986758_5986762del , CM000669.2:g.5986758_5986762del | GRCh38 |
| NC_000007.13:g.6026389_6026393del , CM000669.1:g.6026389_6026393del | GRCh37 |
| NC_000007.12:g.5992915_5992919del | NCBI36 |
| NG_008466.1:g.27348_27352del , LRG_161:g.27348_27352del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699814.2:c.*1402_*1402+4del | ||
| ENST00000699840.2:c.2003_2003+4del | ||
| ENST00000699930.2:c.1898_1898+4del | ||
| ENST00000406569.8:c.1678+328_1678+332del | ENSP00000514464.1:n.1678+328_1678+332del | |
| ENST00000644110.2:c.*1600_*1600+4del | ||
| ENST00000699752.1:c.1850_1850+4del | ||
| ENST00000699753.1:c.*1427_*1427+4del | ||
| ENST00000699754.1:c.1808_1808+4del | ||
| ENST00000699755.1:c.*1405_*1405+4del | ||
| ENST00000699756.1:c.*1593_*1593+4del | ||
| ENST00000699757.1:c.*1263_*1263+4del | ||
| ENST00000699758.1:c.*1263_*1263+4del | ||
| ENST00000699759.1:n.2860_2860+4del | ||
| ENST00000699760.1:c.1688_1688+4del | ||
| ENST00000699761.1:c.1601_1601+4del | ||
| ENST00000699762.1:c.1433_1433+4del | ||
| ENST00000699763.1:c.*1096_*1096+4del | ||
| ENST00000699764.1:c.*324_*324+4del | ||
| ENST00000699765.1:c.*1102_*1102+4del | ||
| ENST00000699766.1:c.2006_2006+4del | ||
| ENST00000699767.1:c.2006_2006+4del | ||
| ENST00000699768.1:c.2006_2006+4del | ||
| ENST00000699811.1:c.1601_1601+4del | ||
| ENST00000699813.1:n.2119_2119+4del | ||
| ENST00000699814.1:c.1629_1629+4del | ||
| ENST00000699815.1:c.*1537_*1537+4del | ||
| ENST00000699816.1:c.*896_*896+4del | ||
| ENST00000699817.1:c.*1600_*1600+4del | ||
| ENST00000699818.1:c.1601_1601+4del | ||
| ENST00000699819.1:c.*1163_*1163+4del | ||
| ENST00000699820.1:c.1144+3041_1144+3045del | ENSP00000514621.1:n.1144+3041_1144+3045de... | |
| ENST00000699821.1:c.1601_1601+4del | ||
| ENST00000699822.1:c.*1458_*1458+4del | ||
| ENST00000699823.1:c.1601_1601+4del | ||
| ENST00000699824.1:c.*1509_*1509+4del | ||
| ENST00000699825.1:c.1445_1445+4del | ||
| ENST00000699826.1:c.*1405_*1405+4del | ||
| ENST00000699827.1:c.1838_1838+4del | ||
| ENST00000699828.1:c.*1096_*1096+4del | ||
| ENST00000699833.1:n.3778_3778+4del | ||
| ENST00000699837.1:c.1601_1601+4del | ||
| ENST00000699838.1:c.*1906_*1906+4del | ||
| ENST00000699839.1:c.2192_2192+4del | ||
| ENST00000699916.1:c.*1263_*1263+4del | ||
| ENST00000699917.1:c.*1455_*1455+4del | ||
| ENST00000699918.1:c.*1507_*1507+4del | ||
| ENST00000699919.1:c.*1593_*1593+4del | ||
| ENST00000699920.1:c.*1642_*1642+4del | ||
| ENST00000699928.1:c.989-3768_989-3764del | ENSP00000514693.1:n.989-3768_989-3764del | |
| ENST00000699951.1:c.*1102_*1102+4del | ||
| ENST00000699952.1:c.803+10567_803+10571del | ENSP00000514707.1:n.803+10567_803+10571de... | |
| ENST00000265849.12:c.2006_2006+4del | ||
| ENST00000642292.1:c.1601_1601+4del | ||
| ENST00000642456.1:c.1601_1601+4del | ||
| ENST00000643595.1:c.*1405_*1405+4del | ||
| ENST00000644110.1:c.1688_1688+4del | ||
| ENST00000265849.11:c.2006_2006+4del | ||
| ENST00000382321.5:c.804-3768_804-3764del | ENSP00000371758.4:n.804-3768_804-3764del | |
| ENST00000406569.7:n.1678+328_1678+332del | ||
| ENST00000441476.6:c.1688_1688+4del | ||
| ENST00000469652.1:n.63-3854_63-3850del | ||
| NM_000535.5:c.2006_2006+4del , LRG_161t1:c.2006_2006+4del | ||
| NR_003085.2:n.2088_2088+4del | ||
| XM_006715742.2:c.2000_2000+4del | ||
| XM_006715744.2:c.1073_1073+4del | ||
| XM_011515427.1:c.2051_2051+4del | ||
| XM_011515428.1:c.1895_1895+4del | ||
| XM_011515429.1:c.1688_1688+4del | ||
| XM_011515430.1:c.1688_1688+4del | ||
| NM_000535.6:c.2006_2006+4del | ||
| NM_001322003.1:c.1601_1601+4del | ||
| NM_001322004.1:c.1601_1601+4del | ||
| NM_001322005.1:c.1601_1601+4del | ||
| NM_001322006.1:c.1850_1850+4del | ||
| NM_001322007.1:c.1688_1688+4del | ||
| NM_001322008.1:c.1688_1688+4del | ||
| NM_001322009.1:c.1601_1601+4del | ||
| NM_001322010.1:c.1445_1445+4del | ||
| NM_001322011.1:c.1073_1073+4del | ||
| NM_001322012.1:c.1073_1073+4del | ||
| NM_001322013.1:c.1433_1433+4del | ||
| NM_001322014.1:c.2006_2006+4del | ||
| NM_001322015.1:c.1697_1697+4del | ||
| NR_136154.1:n.2093_2093+4del | ||
| XM_006715744.4:c.1073_1073+4del | ||
| XM_017012342.2:c.1073_1073+4del | ||
| XM_024446800.1:c.1445_1445+4del | ||
| NM_000535.7:c.2006_2006+4del | ||
| NM_001322003.2:c.1601_1601+4del | ||
| NM_001322004.2:c.1601_1601+4del | ||
| NM_001322005.2:c.1601_1601+4del | ||
| NM_001322006.2:c.1850_1850+4del | ||
| NM_001322008.2:c.1688_1688+4del | ||
| NM_001322009.2:c.1601_1601+4del | ||
| NM_001322010.2:c.1445_1445+4del | ||
| NM_001322011.2:c.1073_1073+4del | ||
| NM_001322012.2:c.1073_1073+4del | ||
| NM_001322013.2:c.1433_1433+4del | ||
| NM_001322014.2:c.2006_2006+4del | ||
| NM_001322015.2:c.1697_1697+4del | ||
| NM_001322007.2:c.1688_1688+4del |