Linked Data
gnomAD v2:
2-44184393-AGGTTATTTCAGGT-A
gnomAD v3:
2-43957254-AGGTTATTTCAGGT-A
gnomAD v4:
2-43957254-AGGTTATTTCAGGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43957255_43957267del , CM000664.2:g.43957255_43957267del | GRCh38 |
| NC_000002.11:g.44184394_44184406del , CM000664.1:g.44184394_44184406del | GRCh37 |
| NC_000002.10:g.44037898_44037910del | NCBI36 |
| NG_008247.1:g.43739_43751del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409659.6:c.1649+118_1649+130del | ENSP00000386562.2:n.1649+118_1649+130del | |
| ENST00000447246.2:c.1649+118_1649+130del | ENSP00000403637.2:n.1649+118_1649+130del | |
| ENST00000467058.2:n.378+118_378+130del | ||
| ENST00000681959.1:n.1263+118_1263+130del | ||
| ENST00000681961.1:n.1669+118_1669+130del | ||
| ENST00000682104.1:c.1523+118_1523+130del | ENSP00000507716.1:n.1523+118_1523+130del | |
| ENST00000682303.1:c.*1521+118_*1521+130del | ENSP00000508325.1:n.*1521+118_*1521+130del | |
| ENST00000682308.1:c.1649+118_1649+130del | ENSP00000507056.1:n.1649+118_1649+130del | |
| ENST00000682480.1:c.1649+118_1649+130del | ENSP00000508344.1:n.1649+118_1649+130del | |
| ENST00000682546.1:c.1649+118_1649+130del | ENSP00000508188.1:n.1649+118_1649+130del | |
| ENST00000682585.1:c.1649+118_1649+130del | ENSP00000506885.1:n.1649+118_1649+130del | |
| ENST00000682595.1:n.2231+118_2231+130del | ||
| ENST00000682607.1:c.67+118_67+130del | ||
| ENST00000682779.1:c.1640+118_1640+130del | ENSP00000507947.1:n.1640+118_1640+130del | |
| ENST00000682885.1:c.1649+118_1649+130del | ENSP00000508036.1:n.1649+118_1649+130del | |
| ENST00000682933.1:n.1723+118_1723+130del | ||
| ENST00000683072.1:n.2231+118_2231+130del | ||
| ENST00000683082.1:n.1667+118_1667+130del | ||
| ENST00000683125.1:c.1649+118_1649+130del | ENSP00000507939.1:n.1649+118_1649+130del | |
| ENST00000683213.1:c.1652+118_1652+130del | ENSP00000507751.1:n.1652+118_1652+130del | |
| ENST00000683220.1:c.1649+118_1649+130del | ENSP00000507151.1:n.1649+118_1649+130del | |
| ENST00000683329.1:n.2452+118_2452+130del | ||
| ENST00000683346.1:c.*1524+118_*1524+130del | ENSP00000507458.1:n.*1524+118_*1524+130del | |
| ENST00000683459.1:n.2236+118_2236+130del | ||
| ENST00000683590.1:c.1649+118_1649+130del | ENSP00000506820.1:n.1649+118_1649+130del | |
| ENST00000683623.1:c.1649+118_1649+130del | ENSP00000507702.1:n.1649+118_1649+130del | |
| ENST00000683645.1:n.2169+118_2169+130del | ||
| ENST00000683694.1:n.400+118_400+130del | ||
| ENST00000683796.1:c.*1521+118_*1521+130del | ENSP00000508221.1:n.*1521+118_*1521+130del | |
| ENST00000683802.1:n.4574+118_4574+130del | ||
| ENST00000683833.1:c.1640+118_1640+130del | ENSP00000506852.1:n.1640+118_1640+130del | |
| ENST00000683934.1:c.1535+118_1535+130del | ||
| ENST00000683989.1:c.1649+118_1649+130del | ENSP00000507510.1:n.1649+118_1649+130del | |
| ENST00000683994.1:c.1649+118_1649+130del | ENSP00000507181.1:n.1649+118_1649+130del | |
| ENST00000684290.1:c.1649+118_1649+130del | ENSP00000507243.1:n.1649+118_1649+130del | |
| ENST00000684306.1:c.*1562+118_*1562+130del | ENSP00000508384.1:n.*1562+118_*1562+130del | |
| ENST00000684341.1:n.1669+118_1669+130del | ||
| ENST00000684383.1:c.*1287+118_*1287+130del | ENSP00000506863.1:n.*1287+118_*1287+130del | |
| ENST00000684482.1:c.4118+118_4118+130del | ||
| ENST00000684619.1:c.*1521+118_*1521+130del | ENSP00000508088.1:n.*1521+118_*1521+130del | |
| ENST00000684743.1:n.2680+118_2680+130del | ||
| ENST00000260665.12:c.1649+118_1649+130del MANE Select | ENSP00000260665.7:n.1649+118_1649+130del | |
| ENST00000260665.11:c.1649+118_1649+130del | ENSP00000260665.7:n.1649+118_1649+130del | |
| ENST00000467058.1:n.378+118_378+130del | ||
| NM_133259.3:c.1649+118_1649+130del | NP_573566.2:n.1649+118_1649+130del | |
| XM_006711915.2:c.1571+118_1571+130del | XP_006711978.1:n.1571+118_1571+130del | |
| XM_006711916.2:c.1649+118_1649+130del | XP_006711979.1:n.1649+118_1649+130del | |
| XM_011532473.1:c.1649+118_1649+130del | XP_011530775.1:n.1649+118_1649+130del | |
| XM_011532474.1:c.1649+118_1649+130del | XP_011530776.1:n.1649+118_1649+130del | |
| XM_006711916.3:c.1649+118_1649+130del | XP_006711979.1:n.1649+118_1649+130del | |
| XM_017003117.1:c.1571+118_1571+130del | XP_016858606.1:n.1571+118_1571+130del | |
| XR_002958896.1:n.1691+118_1691+130del | ||
| NM_133259.4:c.1649+118_1649+130del MANE Select | NP_573566.2:n.1649+118_1649+130del |