Linked Data
ClinVar Variation Id:
210612
dbSNP Id:
rs797045437
gnomAD v2:
4-15599054-TCAGA-T
gnomAD v3:
4-15597431-TCAGA-T
gnomAD v4:
4-15597431-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15597434_15597437del , CM000666.2:g.15597434_15597437del | GRCh38 |
| NC_000004.11:g.15599057_15599060del , CM000666.1:g.15599057_15599060del | GRCh37 |
| NC_000004.10:g.15208155_15208158del | NCBI36 |
| NG_013035.1:g.132569_132572del , LRG_697:g.132569_132572del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.4501_4504del | ENSP00000374303.8:p.Asp1501LysfsTer15 | |
| ENST00000424120.6:c.4465_4468del MANE Select | ENSP00000403465.1:p.Asp1489LysfsTer15 | |
| ENST00000503292.6:c.4465_4468del | ENSP00000421809.1:p.Asp1489LysfsTer15 | |
| ENST00000506643.5:c.4318_4321del | ENSP00000422931.2:p.Asp1440LysfsTer15 | |
| ENST00000513035.2:n.364_367del | ||
| ENST00000514039.6:c.571_574del | ENSP00000488534.2:p.Asp191LysfsTer15 | |
| ENST00000634028.2:c.4259_4262del | ENSP00000488669.2:n.4259_4262del | |
| ENST00000650860.2:c.*1962_*1965del | ENSP00000498775.1:n.*1962_*1965del | |
| ENST00000674945.1:c.4141_4144del | ENSP00000502333.1:p.Asp1381LysfsTer15 | |
| ENST00000680586.1:n.5124_5127del | ||
| ENST00000389652.9:c.3963_3966del | ||
| ENST00000424120.5:c.4465_4468del | ENSP00000403465.1:p.Asp1489LysfsTer15 | |
| ENST00000503292.5:c.4465_4468del | ENSP00000421809.1:p.Asp1489LysfsTer15 | |
| ENST00000506643.4:c.2734_2737del | ||
| ENST00000513035.1:n.364_367del | ||
| ENST00000514039.5:c.81_84del | ||
| ENST00000634028.1:c.4271_4274del | ENSP00000488669.1:n.4271_4274del | |
| NM_001080522.2:c.4465_4468del , LRG_697t1:c.4465_4468del | NP_001073991.2:p.Asp1489LysfsTer15 | |
| XM_005248177.1:c.4465_4468del | XP_005248234.1:p.Asp1489LysfsTer15 | |
| XM_011513869.1:c.4483_4486del | XP_011512171.1:p.Asp1495LysfsTer15 | |
| XM_011513870.1:c.4483_4486del | XP_011512172.1:p.Asp1495LysfsTer15 | |
| XM_011513871.1:c.4336_4339del | XP_011512173.1:p.Asp1446LysfsTer15 | |
| XM_017008482.1:c.4318_4321del | XP_016863971.1:p.Asp1440LysfsTer15 | |
| NM_001378615.1:c.4465_4468del MANE Select | NP_001365544.1:p.Asp1489LysfsTer15 | |
| NM_001378617.1:c.4318_4321del | NP_001365546.1:p.Asp1440LysfsTer15 |