ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32141935_32141940del , CM000664.2:g.32141935_32141940del | GRCh38 |
| NC_000002.11:g.32367004_32367009del , CM000664.1:g.32367004_32367009del | GRCh37 |
| NC_000002.10:g.32220508_32220513del | NCBI36 |
| NG_008730.1:g.83325_83330del , LRG_714:g.83325_83330del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*1185_*1190del | ENSP00000515816.1:n.*1185_*1190del | |
| ENST00000315285.9:c.1525_1530del MANE Select | ENSP00000320885.3:p.Pro509_Asn510del | |
| ENST00000621856.2:c.1522_1527del | ENSP00000482496.2:p.Pro508_Asn509del | |
| ENST00000642281.1:c.1262_1267del | ||
| ENST00000642455.1:c.1426_1431del | ENSP00000493827.1:p.Pro476_Asn477del | |
| ENST00000642751.1:c.1299_1304del | ||
| ENST00000642999.1:c.1267_1272del | ENSP00000496589.1:p.Pro423_Asn424del | |
| ENST00000643327.1:c.592_597del | ||
| ENST00000643334.1:c.1105_1110del | ||
| ENST00000644408.1:c.1401_1406del | ||
| ENST00000644954.1:c.1171_1176del | ENSP00000494312.1:p.Pro391_Asn392del | |
| ENST00000645159.1:n.2262_2267del | ||
| ENST00000645671.1:c.975_980del | ||
| ENST00000645730.1:c.704_709del | ||
| ENST00000646082.1:c.1171_1176del | ||
| ENST00000646571.1:c.1429_1434del | ENSP00000495015.1:p.Pro477_Asn478del | |
| ENST00000647007.1:n.1217_1222del | ||
| ENST00000647133.1:c.1025_1030del | ||
| ENST00000315285.7:c.1525_1530del | ENSP00000320885.3:p.Pro509_Asn510del | |
| ENST00000345662.5:c.1429_1434del | ENSP00000340817.1:p.Pro477_Asn478del | |
| ENST00000615843.4:c.1525_1530del | ENSP00000480893.1:p.Pro509_Asn510del | |
| ENST00000621856.1:c.1267_1272del | ENSP00000482496.1:p.Pro423_Asn424del | |
| NM_014946.3:c.1525_1530del , LRG_714t1:c.1525_1530del | NP_055761.2:p.Pro509_Asn510del | |
| NM_199436.1:c.1429_1434del | NP_955468.1:p.Pro477_Asn478del | |
| XM_005264516.3:c.1522_1527del | XP_005264573.1:p.Pro508_Asn509del | |
| XM_011533067.1:c.1525_1530del | XP_011531369.1:p.Pro509_Asn510del | |
| NM_001363823.1:c.1522_1527del | NP_001350752.1:p.Pro508_Asn509del | |
| NM_001363875.1:c.1426_1431del | NP_001350804.1:p.Pro476_Asn477del | |
| XM_005264516.5:c.1522_1527del | XP_005264573.1:p.Pro508_Asn509del | |
| XM_011533067.2:c.1525_1530del | XP_011531369.1:p.Pro509_Asn510del | |
| XM_017004778.2:c.1429_1434del | XP_016860267.1:p.Pro477_Asn478del | |
| NM_001363823.2:c.1522_1527del | NP_001350752.1:p.Pro508_Asn509del | |
| NM_001363875.2:c.1426_1431del | NP_001350804.1:p.Pro476_Asn477del | |
| NM_001377959.1:c.1429_1434del | NP_001364888.1:p.Pro477_Asn478del | |
| NM_014946.4:c.1525_1530del MANE Select | NP_055761.2:p.Pro509_Asn510del | |
| NM_199436.2:c.1429_1434del | NP_955468.1:p.Pro477_Asn478del |