Linked Data
ClinVar Variation Id:
2853564
ClinVar RCV Id:
RCV003752341
dbSNP Id:
rs761200300
ExAC:
13:23905171 CAGAGA / C
gnomAD v2:
13-23905171-CAGAGA-C
gnomAD v3:
13-23331032-CAGAGA-C
gnomAD v4:
13-23331032-CAGAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23331034_23331038del , CM000675.2:g.23331034_23331038del | GRCh38 |
| NC_000013.10:g.23905173_23905177del , CM000675.1:g.23905173_23905177del | GRCh37 |
| NC_000013.9:g.22803173_22803177del | NCBI36 |
| NG_012342.1:g.107666_107670del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18922_2186-18918del | ENSP00000508399.1:n.2186-18922_2186-18918del | |
| ENST00000682944.1:c.12866_12870del | ENSP00000507173.1:p.Phe4289TrpfsTer2 | |
| ENST00000683210.1:c.2185+22748_2185+22752del | ENSP00000506739.1:n.2185+22748_2185+22752del | |
| ENST00000683270.1:c.6446-1553_6446-1549del | ENSP00000507624.1:n.6446-1553_6446-1549del | |
| ENST00000683367.1:c.2177-1553_2177-1549del | ENSP00000507780.1:n.2177-1553_2177-1549del | |
| ENST00000683489.1:c.2292-1085_2292-1081del | ENSP00000508403.1:n.2292-1085_2292-1081del | |
| ENST00000683680.1:c.2319-1085_2319-1081del | ENSP00000507223.1:n.2319-1085_2319-1081del | |
| ENST00000684163.1:c.2204-1553_2204-1549del | ENSP00000508262.1:n.2204-1553_2204-1549del | |
| ENST00000684196.1:n.4543-1553_4543-1549del | ||
| ENST00000684325.1:c.2186-9363_2186-9359del | ENSP00000508121.1:n.2186-9363_2186-9359del | |
| ENST00000684385.1:c.2221-1553_2221-1549del | ENSP00000507855.1:n.2221-1553_2221-1549del | |
| ENST00000684497.1:c.2186-8393_2186-8389del | ENSP00000507057.1:n.2186-8393_2186-8389del | |
| ENST00000382292.9:c.12839_12843del MANE Select | ENSP00000371729.3:p.Phe4280TrpfsTer2 | |
| ENST00000423156.2:c.2186-1553_2186-1549del | ENSP00000390925.2:n.2186-1553_2186-1549del | |
| ENST00000455470.6:c.2432-1553_2432-1549del | ENSP00000406565.2:n.2432-1553_2432-1549del | |
| ENST00000382292.7:c.12839_12843del | ENSP00000371729.3:p.Phe4280TrpfsTer2 | |
| ENST00000382298.7:c.12839_12843del | ENSP00000371735.3:p.Phe4280TrpfsTer2 | |
| ENST00000402364.1:c.10589_10593del | ENSP00000385844.1:p.Phe3530TrpfsTer2 | |
| ENST00000423156.1:c.1058-1553_1058-1549del | ENSP00000390925.1:n.1058-1553_1058-1549del | |
| ENST00000455470.5:c.2130-1553_2130-1549del | ||
| NM_001278055.1:c.12398_12402del | NP_001264984.1:p.Phe4133TrpfsTer2 | |
| NM_014363.5:c.12839_12843del | NP_055178.3:p.Phe4280TrpfsTer2 | |
| XM_005266338.1:c.12866_12870del | XP_005266395.1:p.Phe4289TrpfsTer2 | |
| XM_011535038.1:c.12890_12894del | XP_011533340.1:p.Phe4297TrpfsTer2 | |
| XM_011535039.1:c.12857_12861del | XP_011533341.1:p.Phe4286TrpfsTer2 | |
| XM_005266338.2:c.12866_12870del | XP_005266395.1:p.Phe4289TrpfsTer2 | |
| XM_011535039.2:c.12857_12861del | XP_011533341.1:p.Phe4286TrpfsTer2 | |
| XM_017020539.1:c.12830_12834del | XP_016876028.1:p.Phe4277TrpfsTer2 | |
| XM_024449337.1:c.12866_12870del | XP_024305105.1:p.Phe4289TrpfsTer2 | |
| NM_014363.6:c.12839_12843del MANE Select | NP_055178.3:p.Phe4280TrpfsTer2 | |
| NM_001278055.2:c.12398_12402del | NP_001264984.1:p.Phe4133TrpfsTer2 |