Linked Data
ClinVar Variation Id:
3854
ClinVar RCV Id:
RCV000004058
dbSNP Id:
rs2138570625
gnomAD v4:
13-51937484-GGAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937489_51937491del , CM000675.2:g.51937489_51937491del | GRCh38 |
| NC_000013.10:g.52511625_52511627del , CM000675.1:g.52511625_52511627del | GRCh37 |
| NC_000013.9:g.51409626_51409628del | NCBI36 |
| NG_008806.1:g.79008_79010del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1542_*1544del | ENSP00000489512.2:n.*1542_*1544del | |
| ENST00000673864.2:c.*2636_*2638del | ENSP00000501045.2:n.*2636_*2638del | |
| ENST00000674147.2:c.3271_3273del | ENSP00000500964.2:p.Val1091del | |
| ENST00000242839.10:c.3892_3894del MANE Select | ENSP00000242839.5:p.Val1298del | |
| ENST00000344297.9:c.3271_3273del | ENSP00000342559.5:p.Val1091del | |
| ENST00000400366.6:c.3559_3561del | ENSP00000383217.3:p.Val1187del | |
| ENST00000448424.7:c.3640_3642del | ENSP00000416738.3:p.Val1214del | |
| ENST00000673696.1:n.1133_1135del | ||
| ENST00000673772.1:c.3658_3660del | ENSP00000501168.1:p.Val1220del | |
| ENST00000673867.1:n.4031_4033del | ||
| ENST00000673923.1:n.758_760del | ||
| ENST00000674147.1:c.2827_2829del | ENSP00000500964.1:p.Val943del | |
| ENST00000242839.8:c.3892_3894del | ENSP00000242839.4:p.Val1298del | |
| ENST00000344297.8:c.3271_3273del | ENSP00000342559.5:p.Val1091del | |
| ENST00000400366.5:c.3559_3561del | ENSP00000383217.3:p.Val1187del | |
| ENST00000400370.8:c.2602_2604del | ENSP00000383221.3:p.Val868del | |
| ENST00000418097.7:c.3697_3699del | ENSP00000393343.2:p.Val1233del | |
| ENST00000448424.6:c.3658_3660del | ENSP00000416738.2:p.Val1220del | |
| ENST00000634296.1:c.1670_1672del | ||
| ENST00000634308.1:c.*993_*995del | ENSP00000489234.1:n.*993_*995del | |
| ENST00000634620.1:n.4636_4638del | ||
| ENST00000634810.1:n.3237_3239del | ||
| ENST00000634844.1:c.3748_3750del | ENSP00000489398.1:p.Val1250del | |
| NM_000053.3:c.3892_3894del | NP_000044.2:p.Val1298del | |
| NM_001005918.2:c.3271_3273del | NP_001005918.1:p.Val1091del | |
| NM_001243182.1:c.3559_3561del | NP_001230111.1:p.Val1187del | |
| XM_005266423.2:c.3796_3798del | XP_005266480.1:p.Val1266del | |
| XM_005266424.3:c.3796_3798del | XP_005266481.1:p.Val1266del | |
| XM_005266427.2:c.3658_3660del | XP_005266484.1:p.Val1220del | |
| XM_005266428.1:c.3640_3642del | XP_005266485.1:p.Val1214del | |
| XM_005266430.3:c.3892_3894del | XP_005266487.1:p.Val1298del | |
| XM_005266431.2:c.3856_3858del | XP_005266488.1:p.Val1286del | |
| XM_005266432.2:c.3406_3408del | XP_005266489.1:p.Val1136del | |
| XM_006719837.2:c.3796_3798del | XP_006719900.1:p.Val1266del | |
| XM_006719838.1:c.1708_1710del | XP_006719901.1:p.Val570del | |
| XM_006719839.1:c.1525_1527del | XP_006719902.1:p.Val509del | |
| XM_011535117.1:c.3796_3798del | XP_011533419.1:p.Val1266del | |
| XM_011535118.1:c.3757_3759del | XP_011533420.1:p.Val1253del | |
| XM_011535119.1:c.3709_3711del | XP_011533421.1:p.Val1237del | |
| XM_011535120.1:c.3478_3480del | XP_011533422.1:p.Val1160del | |
| XM_011535121.1:c.3379_3381del | XP_011533423.1:p.Val1127del | |
| XM_011535122.1:c.2560_2562del | XP_011533424.1:p.Val854del | |
| XR_941601.1:n.4111_4113del | ||
| XR_941602.1:n.4111_4113del | ||
| XR_941603.1:n.4111_4113del | ||
| XR_941604.1:n.4111_4113del | ||
| NM_001330578.1:c.3658_3660del | NP_001317507.1:p.Val1220del | |
| NM_001330579.1:c.3640_3642del | NP_001317508.1:p.Val1214del | |
| XM_005266424.4:c.3796_3798del | XP_005266481.1:p.Val1266del | |
| XM_005266430.4:c.3892_3894del | XP_005266487.1:p.Val1298del | |
| XM_005266431.4:c.3856_3858del | XP_005266488.1:p.Val1286del | |
| XM_006719837.3:c.3796_3798del | XP_006719900.1:p.Val1266del | |
| XM_011535117.3:c.3796_3798del | XP_011533419.1:p.Val1266del | |
| XM_017020627.1:c.3796_3798del | XP_016876116.1:p.Val1266del | |
| NM_000053.4:c.3892_3894del MANE Select | NP_000044.2:p.Val1298del | |
| NM_001005918.3:c.3271_3273del | NP_001005918.1:p.Val1091del | |
| NM_001330579.2:c.3640_3642del | NP_001317508.1:p.Val1214del | |
| NM_001243182.2:c.3559_3561del | NP_001230111.1:p.Val1187del | |
| NM_001330578.2:c.3658_3660del | NP_001317507.1:p.Val1220del |