Linked Data
dbSNP Id:
rs1398906407
gnomAD v2:
3-47041864-GGAT-G
gnomAD v3:
3-47000374-GGAT-G
gnomAD v4:
3-47000374-GGAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47000378_47000380del , CM000665.2:g.47000378_47000380del | GRCh38 |
| NC_000003.11:g.47041868_47041870del , CM000665.1:g.47041868_47041870del | GRCh37 |
| NC_000003.10:g.47016872_47016874del | NCBI36 |
| NG_031914.1:g.25696_25698del , LRG_568:g.25696_25698del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.4279_4281del MANE Select | ENSP00000415034.2:p.Asp1427del | |
| ENST00000651747.1:c.4177_4179del | ENSP00000499216.1:p.Asp1393del | |
| ENST00000416683.5:c.2142_2144del | ||
| ENST00000450053.7:c.4279_4281del | ENSP00000415034.2:p.Asp1427del | |
| NM_015175.2:c.4279_4281del , LRG_568t1:c.4279_4281del | NP_055990.1:p.Asp1427del | |
| XM_005264992.2:c.4177_4179del | XP_005265049.1:p.Asp1393del | |
| XM_005264993.2:c.751_753del | XP_005265050.1:p.Asp251del | |
| XM_006713072.2:c.4198_4200del | XP_006713135.1:p.Asp1400del | |
| XM_011533532.1:c.4258_4260del | XP_011531834.1:p.Asp1420del | |
| XM_011533533.1:c.4279_4281del | XP_011531835.1:p.Asp1427del | |
| XM_011533534.1:c.3910_3912del | XP_011531836.1:p.Asp1304del | |
| XM_011533535.1:c.3739_3741del | XP_011531837.1:p.Asp1247del | |
| XM_011533536.1:c.3625_3627del | XP_011531838.1:p.Asp1209del | |
| XM_011533537.1:c.3187_3189del | XP_011531839.1:p.Asp1063del | |
| XR_940397.1:n.4455_4457del | ||
| XR_940398.1:n.4455_4457del | ||
| NM_001365116.1:c.4177_4179del | NP_001352045.1:p.Asp1393del | |
| XM_006713072.3:c.4198_4200del | XP_006713135.1:p.Asp1400del | |
| XM_011533533.2:c.4279_4281del | XP_011531835.1:p.Asp1427del | |
| XM_017006010.1:c.4279_4281del | XP_016861499.1:p.Asp1427del | |
| XM_017006011.1:c.4258_4260del | XP_016861500.1:p.Asp1420del | |
| XM_017006012.1:c.4198_4200del | XP_016861501.1:p.Asp1400del | |
| XM_017006013.1:c.4279_4281del | XP_016861502.1:p.Asp1427del | |
| XM_017006014.1:c.4177_4179del | XP_016861503.1:p.Asp1393del | |
| XM_017006015.1:c.3910_3912del | XP_016861504.1:p.Asp1304del | |
| XM_017006016.1:c.3739_3741del | XP_016861505.1:p.Asp1247del | |
| XM_017006017.1:c.751_753del | XP_016861506.1:p.Asp251del | |
| XR_940397.2:n.4455_4457del | ||
| NM_001365116.2:c.4177_4179del | NP_001352045.1:p.Asp1393del | |
| NM_015175.3:c.4279_4281del MANE Select | NP_055990.1:p.Asp1427del |