Linked Data
ClinVar Variation Id:
1018253
ClinVar RCV Id:
RCV001317526
dbSNP Id:
rs747902604
ExAC:
1:78401557 TG / T
gnomAD v2:
1-78401557-TG-T
gnomAD v3:
1-77935872-TG-T
gnomAD v4:
1-77935872-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935873del , CM000663.2:g.77935873del | GRCh38 |
| NC_000001.10:g.78401558del , CM000663.1:g.78401558del | GRCh37 |
| NC_000001.9:g.78174146del | NCBI36 |
| NG_016625.1:g.52359del , LRG_442:g.52359del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1302del MANE Select | ENSP00000333938.7:p.Ile435SerfsTer3 | |
| ENST00000330010.12:c.1110del | ENSP00000327363.8:p.Ile371SerfsTer3 | |
| ENST00000334785.11:c.1302del | ENSP00000333938.7:p.Ile435SerfsTer3 | |
| ENST00000342754.5:c.1001del | ||
| ENST00000440324.5:c.1260del | ENSP00000411902.1:p.Ile421SerfsTer3 | |
| ENST00000464998.1:n.762del | ||
| ENST00000480732.2:n.876del | ||
| NM_001172309.1:c.1110del | NP_001165780.1:p.Ile371SerfsTer3 | |
| NM_144573.3:c.1302del , LRG_442t1:c.1302del | NP_653174.3:p.Ile435SerfsTer3 | |
| XM_005271322.2:c.1302del | XP_005271379.1:p.Ile435SerfsTer3 | |
| XM_005271323.2:c.1260del | XP_005271380.1:p.Ile421SerfsTer3 | |
| XM_005271324.3:c.1110del | XP_005271381.1:p.Ile371SerfsTer3 | |
| XM_005271325.2:c.1251+2394del | XP_005271382.1:n.1251+2394del | |
| XM_005271326.2:c.1068del | XP_005271383.1:p.Ile357SerfsTer3 | |
| XM_005271327.2:c.885del | XP_005271384.1:p.Ile296SerfsTer3 | |
| XM_005271322.4:c.1302del | XP_005271379.1:p.Ile435SerfsTer3 | |
| XM_005271323.4:c.1260del | XP_005271380.1:p.Ile421SerfsTer3 | |
| XM_005271324.5:c.1110del | XP_005271381.1:p.Ile371SerfsTer3 | |
| XM_005271325.4:c.1251+2394del | XP_005271382.1:n.1251+2394del | |
| XM_005271326.4:c.1068del | XP_005271383.1:p.Ile357SerfsTer3 | |
| XM_005271327.4:c.885del | XP_005271384.1:p.Ile296SerfsTer3 | |
| NM_001172309.2:c.1110del | NP_001165780.1:p.Ile371SerfsTer3 | |
| NM_144573.4:c.1302del MANE Select | NP_653174.3:p.Ile435SerfsTer3 |