Linked Data
dbSNP Id:
rs1483010148
gnomAD v2:
3-37067123-TACAGAC-T
gnomAD v3:
3-37025632-TACAGAC-T
gnomAD v4:
3-37025632-TACAGAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.37025633_37025638del , CM000665.2:g.37025633_37025638del | GRCh38 |
| NC_000003.11:g.37067124_37067129del , CM000665.1:g.37067124_37067129del | GRCh37 |
| NC_000003.10:g.37042128_37042133del | NCBI36 |
| NG_007109.2:g.37284_37289del , LRG_216:g.37284_37289del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413740.2:c.1039-4_1040del | ||
| ENST00000429117.6:c.745-4_746del | ||
| ENST00000450420.6:c.1039-4_1040del | ||
| ENST00000456676.7:c.1039-4_1040del | ||
| ENST00000458009.6:c.885-4_886del | ||
| ENST00000492474.6:c.316-4_317del | ||
| ENST00000616768.6:c.1039-4_1040del | ||
| ENST00000673673.2:c.1039-4_1040del | ||
| ENST00000231790.8:c.1039-4_1040del | ||
| ENST00000413212.2:c.68-4_69del | ||
| ENST00000432299.6:c.*871-4_*872del | ||
| ENST00000441265.6:c.316-4_317del | ||
| ENST00000442249.6:n.847-4_848del | ||
| ENST00000447829.6:c.*150-4_*151del | ||
| ENST00000539477.6:c.316-4_317del | ||
| ENST00000616768.5:c.76-4_77del | ||
| ENST00000673673.1:c.992-4_993del | ||
| ENST00000673713.1:n.1163-4_1164del | ||
| ENST00000673715.1:c.1039-4_1040del | ||
| ENST00000673889.1:n.421-4_422del | ||
| ENST00000673897.1:c.*831-4_*832del | ||
| ENST00000673899.1:c.678-3151_678-3146del | ENSP00000501030.1:n.678-3151_678-3146del | |
| ENST00000673947.1:c.*1179-4_*1180del | ||
| ENST00000673972.1:c.*917-4_*918del | ||
| ENST00000673990.1:n.930-4_931del | ||
| ENST00000674019.1:c.316-4_317del | ||
| ENST00000674107.1:n.887-4_888del | ||
| ENST00000674111.1:c.1039-4_1040del | ||
| ENST00000231790.6:c.1039-4_1040del | ||
| ENST00000413212.1:c.114-4_115del | ||
| ENST00000435176.5:c.745-4_746del | ||
| ENST00000447829.5:c.326-4_327del | ||
| ENST00000455445.6:c.316-4_317del | ||
| ENST00000456676.6:c.1014-4_1015del | ||
| ENST00000458009.5:c.226-4_227del | ||
| ENST00000458205.6:c.316-4_317del | ||
| ENST00000536378.5:c.316-4_317del | ||
| ENST00000539477.5:c.316-4_317del | ||
| NM_000249.3:c.1039-4_1040del , LRG_216t1:c.1039-4_1040del | ||
| NM_001167617.1:c.745-4_746del | ||
| NM_001167618.1:c.316-4_317del | ||
| NM_001167619.1:c.316-4_317del | ||
| NM_001258271.1:c.1039-4_1040del | ||
| NM_001258273.1:c.316-4_317del | ||
| NM_001258274.1:c.316-4_317del | ||
| XM_005265161.1:c.832-4_833del | ||
| XM_005265163.1:c.316-4_317del | ||
| XM_005265164.1:c.316-4_317del | ||
| XM_005265166.1:c.16-4_17del | ||
| XM_011533727.1:c.-36-4_-35del | ||
| NM_001167617.2:c.745-4_746del | ||
| NM_001167618.2:c.316-4_317del | ||
| NM_001167619.2:c.316-4_317del | ||
| NM_001258274.2:c.316-4_317del | ||
| NM_001354615.1:c.316-4_317del | ||
| NM_001354616.1:c.316-4_317del | ||
| NM_001354617.1:c.316-4_317del | ||
| NM_001354618.1:c.316-4_317del | ||
| NM_001354619.1:c.316-4_317del | ||
| NM_001354620.1:c.745-4_746del | ||
| NM_001354621.1:c.16-4_17del | ||
| NM_001354622.1:c.16-4_17del | ||
| NM_001354623.1:c.16-4_17del | ||
| NM_001354624.1:c.-36-4_-35del | ||
| NM_001354625.1:c.-36-4_-35del | ||
| NM_001354626.1:c.-36-4_-35del | ||
| NM_001354627.1:c.-36-4_-35del | ||
| NM_001354628.1:c.1039-4_1040del | ||
| NM_001354629.1:c.940-4_941del | ||
| NM_001354630.1:c.1039-4_1040del | ||
| XM_005265161.2:c.832-4_833del | ||
| XM_017006450.2:c.16-4_17del | ||
| NM_000249.4:c.1039-4_1040del | ||
| NM_001167617.3:c.745-4_746del | ||
| NM_001167618.3:c.316-4_317del | ||
| NM_001167619.3:c.316-4_317del | ||
| NM_001258271.2:c.1039-4_1040del | ||
| NM_001258273.2:c.316-4_317del | ||
| NM_001258274.3:c.316-4_317del | ||
| NM_001354615.2:c.316-4_317del | ||
| NM_001354616.2:c.316-4_317del | ||
| NM_001354617.2:c.316-4_317del | ||
| NM_001354618.2:c.316-4_317del | ||
| NM_001354619.2:c.316-4_317del | ||
| NM_001354620.2:c.745-4_746del | ||
| NM_001354621.2:c.16-4_17del | ||
| NM_001354622.2:c.16-4_17del | ||
| NM_001354623.2:c.16-4_17del | ||
| NM_001354624.2:c.-36-4_-35del | ||
| NM_001354625.2:c.-36-4_-35del | ||
| NM_001354626.2:c.-36-4_-35del | ||
| NM_001354627.2:c.-36-4_-35del | ||
| NM_001354628.2:c.1039-4_1040del | ||
| NM_001354629.2:c.940-4_941del | ||
| NM_001354630.2:c.1039-4_1040del |