Linked Data
ClinVar Variation Id:
1074828
ClinVar RCV Id:
RCV001388260
dbSNP Id:
rs2109060174
gnomAD v4:
4-15559208-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15559210del , CM000666.2:g.15559210del | GRCh38 |
| NC_000004.11:g.15560833del , CM000666.1:g.15560833del | GRCh37 |
| NC_000004.10:g.15169931del | NCBI36 |
| NG_013035.1:g.94345del , LRG_697:g.94345del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.2875del | ENSP00000374303.8:p.Glu959AsnfsTer3 | |
| ENST00000424120.6:c.2875del MANE Select | ENSP00000403465.1:p.Glu959AsnfsTer3 | |
| ENST00000503292.6:c.2875del | ENSP00000421809.1:p.Glu959AsnfsTer3 | |
| ENST00000506643.5:c.2728del | ENSP00000422931.2:p.Glu910AsnfsTer3 | |
| ENST00000634028.2:c.2728del | ENSP00000488669.2:p.Glu910AsnfsTer3 | |
| ENST00000650860.2:c.2728del | ENSP00000498775.1:p.Glu910AsnfsTer3 | |
| ENST00000674945.1:c.2728del | ENSP00000502333.1:p.Glu910AsnfsTer3 | |
| ENST00000675619.1:n.954del | ||
| ENST00000675768.1:n.95del | ||
| ENST00000676337.1:c.2728del | ENSP00000501728.1:p.Glu910AsnfsTer3 | |
| ENST00000680586.1:n.802del | ||
| ENST00000389652.9:c.2337del | ||
| ENST00000424120.5:c.2875del | ENSP00000403465.1:p.Glu959AsnfsTer3 | |
| ENST00000503292.5:c.2875del | ENSP00000421809.1:p.Glu959AsnfsTer3 | |
| ENST00000506643.4:c.1203del | ||
| ENST00000634028.1:c.2858del | ENSP00000488669.1:n.2858del | |
| NM_001080522.2:c.2875del , LRG_697t1:c.2875del | NP_001073991.2:p.Glu959AsnfsTer3 | |
| XM_005248177.1:c.2875del | XP_005248234.1:p.Glu959AsnfsTer3 | |
| XM_011513869.1:c.2875del | XP_011512171.1:p.Glu959AsnfsTer3 | |
| XM_011513870.1:c.2875del | XP_011512172.1:p.Glu959AsnfsTer3 | |
| XM_011513871.1:c.2728del | XP_011512173.1:p.Glu910AsnfsTer3 | |
| XM_011513872.1:c.2875del | XP_011512174.1:p.Glu959AsnfsTer3 | |
| XM_011513873.1:c.2875del | XP_011512175.1:p.Glu959AsnfsTer3 | |
| XM_011513872.3:c.2875del | XP_011512174.1:p.Glu959AsnfsTer3 | |
| XM_017008482.1:c.2728del | XP_016863971.1:p.Glu910AsnfsTer3 | |
| XR_001741296.1:n.3075del | ||
| NM_001378615.1:c.2875del MANE Select | NP_001365544.1:p.Glu959AsnfsTer3 | |
| NM_001378617.1:c.2728del | NP_001365546.1:p.Glu910AsnfsTer3 |