Linked Data
ClinVar Variation Id:
1329462
ClinVar RCV Id:
RCV001799538
dbSNP Id:
rs759351997
ExAC:
6:158535995 CAAG / C
gnomAD v2:
6-158535995-CAAG-C
gnomAD v4:
6-158114963-CAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158114968_158114970del , CM000668.2:g.158114968_158114970del | GRCh38 |
| NC_000006.11:g.158536000_158536002del , CM000668.1:g.158536000_158536002del | GRCh37 |
| NC_000006.10:g.158455988_158455990del | NCBI36 |
| NG_032889.1:g.58315_58317del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435180.6:c.719_721del | ENSP00000391168.2:n.719_721del | |
| ENST00000607071.6:c.*1227_*1229del | ENSP00000475855.1:n.*1227_*1229del | |
| ENST00000642244.1:c.1417_1419del | ENSP00000493554.1:p.Leu473del | |
| ENST00000642903.1:c.1507_1509del | ENSP00000493559.1:p.Leu503del | |
| ENST00000644972.1:c.1507_1509del | ENSP00000496451.1:p.Leu503del | |
| ENST00000645077.1:c.*1128_*1130del | ENSP00000496113.1:n.*1128_*1130del | |
| ENST00000645172.1:c.*1209_*1211del | ENSP00000495367.1:n.*1209_*1211del | |
| ENST00000646190.1:n.2838_2840del | ||
| ENST00000646208.1:c.1243_1245del | ENSP00000493723.1:p.Leu415del | |
| ENST00000646410.1:c.1378_1380del | ENSP00000494205.1:p.Leu460del | |
| ENST00000646562.1:c.*1341_*1343del | ENSP00000496087.1:n.*1341_*1343del | |
| ENST00000647468.2:c.1507_1509del MANE Select | ENSP00000496731.1:p.Leu503del | |
| ENST00000648111.1:c.*1195_*1197del | ENSP00000497275.1:n.*1195_*1197del | |
| ENST00000367101.5:c.1551_1553del | ENSP00000356068.1:p.Phe517del | |
| ENST00000367104.7:c.1507_1509del | ENSP00000356071.3:p.Leu503del | |
| ENST00000435180.5:c.232_234del | ENSP00000391168.1:p.Leu78del | |
| ENST00000606965.5:c.*68_*70del | ENSP00000475808.1:n.*68_*70del | |
| ENST00000607071.5:c.*1441_*1443del | ENSP00000475855.1:n.*1441_*1443del | |
| ENST00000607742.5:c.*2785_*2787del | ENSP00000475523.1:n.*2785_*2787del | |
| NM_032861.3:c.1507_1509del | NP_116250.3:p.Leu503del | |
| NR_073096.1:n.1440_1442del | ||
| XM_006715586.1:c.1297_1299del | XP_006715649.1:p.Leu433del | |
| XM_011536196.1:c.1486_1488del | XP_011534498.1:p.Leu496del | |
| XM_011536197.1:c.1393_1395del | XP_011534499.1:p.Leu465del | |
| XM_011536198.1:c.1297_1299del | XP_011534500.1:p.Leu433del | |
| XM_006715586.3:c.1297_1299del | XP_006715649.1:p.Leu433del | |
| XM_011536196.3:c.1486_1488del | XP_011534498.1:p.Leu496del | |
| XM_011536198.3:c.1297_1299del | XP_011534500.1:p.Leu433del | |
| XM_024446573.1:c.1507_1509del | XP_024302341.1:p.Leu503del | |
| XR_001743697.2:n.1538_1540del | ||
| XR_942606.2:n.1589_1591del | ||
| NM_032861.4:c.1507_1509del MANE Select | NP_116250.3:p.Leu503del | |
| NR_073096.2:n.1422_1424del |