Linked Data
ClinVar Variation Id:
156379
dbSNP Id:
rs587783011
ExAC:
3:121491447 T / TTC
gnomAD v2:
3-121491447-T-TTC
gnomAD v4:
3-121772600-T-TTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121772604_121772605dup , CM000665.2:g.121772604_121772605dup | GRCh38 |
| NC_000003.11:g.121491451_121491452dup , CM000665.1:g.121491451_121491452dup | GRCh37 |
| NC_000003.10:g.122974141_122974142dup | NCBI36 |
| NG_015887.1:g.67478_67479dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.1522_1523dup MANE Select | ENSP00000311505.6:p.Ala509LysfsTer3 | |
| ENST00000310864.10:c.1522_1523dup | ENSP00000311505.6:p.Ala509LysfsTer3 | |
| ENST00000349820.10:c.1123_1124dup | ENSP00000323756.7:p.Ala376LysfsTer3 | |
| ENST00000393650.7:c.*500_*501dup | ENSP00000377261.3:n.*500_*501dup | |
| NM_001023570.2:c.1522_1523dup | NP_001018864.2:p.Ala509LysfsTer3 | |
| NM_001023571.2:c.1123_1124dup | NP_001018865.2:p.Ala376LysfsTer3 | |
| XM_005247911.2:c.1411-2028_1411-2027dup | XP_005247968.1:n.1411-2028_1411-2027dup | |
| XM_005247912.1:c.970_971dup | XP_005247969.1:p.Ala325LysfsTer3 | |
| XM_011513335.1:c.970_971dup | XP_011511637.1:p.Ala325LysfsTer3 | |
| XR_924221.1:n.1539_1540dup | ||
| NM_001023570.3:c.1522_1523dup | NP_001018864.2:p.Ala509LysfsTer3 | |
| NM_001023571.3:c.1123_1124dup | NP_001018865.2:p.Ala376LysfsTer3 | |
| NM_001319107.1:c.1522_1523dup | NP_001306036.1:p.Ala509LysfsTer3 | |
| NR_134968.1:n.1626_1627dup | ||
| XM_005247911.4:c.1411-2028_1411-2027dup | XP_005247968.1:n.1411-2028_1411-2027dup | |
| XM_005247912.3:c.970_971dup | XP_005247969.1:p.Ala325LysfsTer3 | |
| XM_011513335.3:c.970_971dup | XP_011511637.1:p.Ala325LysfsTer3 | |
| XM_017007537.2:c.970_971dup | XP_016863026.1:p.Ala325LysfsTer3 | |
| XM_017007539.2:c.1012-2028_1012-2027dup | XP_016863028.1:n.1012-2028_1012-2027dup | |
| XM_024453833.1:c.970_971dup | XP_024309601.1:p.Ala325LysfsTer3 | |
| XM_024453834.1:c.970_971dup | XP_024309602.1:p.Ala325LysfsTer3 | |
| XR_001740376.2:n.1501_1502dup | ||
| XR_001740377.2:n.1390-2028_1390-2027dup | ||
| XR_001740378.2:n.1540_1541dup | ||
| XR_001740379.2:n.1391_1392dup | ||
| XR_001740380.2:n.1429-2028_1429-2027dup | ||
| XR_001740381.2:n.1280-2028_1280-2027dup | ||
| NM_001023570.4:c.1522_1523dup MANE Select | NP_001018864.2:p.Ala509LysfsTer3 | |
| NM_001023571.4:c.1123_1124dup | NP_001018865.2:p.Ala376LysfsTer3 | |
| NM_001319107.2:c.1522_1523dup | NP_001306036.1:p.Ala509LysfsTer3 | |
| NR_134968.2:n.1607_1608dup |