Linked Data
ClinVar Variation Id:
56317
dbSNP Id:
rs386833765
gnomAD v2:
4-15516444-CG-C
gnomAD v3:
4-15514821-CG-C
gnomAD v4:
4-15514821-CG-C
PubMed:
PMID:19777577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15514823del , CM000666.2:g.15514823del | GRCh38 |
| NC_000004.11:g.15516446del , CM000666.1:g.15516446del | GRCh37 |
| NC_000004.10:g.15125544del | NCBI36 |
| NG_013035.1:g.49958del , LRG_697:g.49958del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389652.11:c.834del | ENSP00000374303.8:p.Leu279CysfsTer? | |
| ENST00000424120.6:c.834del MANE Select | ENSP00000403465.1:p.Leu279CysfsTer? | |
| ENST00000503292.6:c.834del | ENSP00000421809.1:p.Leu279CysfsTer? | |
| ENST00000506643.5:c.687del | ENSP00000422931.2:p.Leu230CysfsTer? | |
| ENST00000512702.6:c.834del | ENSP00000422875.2:p.Leu279CysfsTer? | |
| ENST00000634028.2:c.687del | ENSP00000488669.2:p.Leu230CysfsTer? | |
| ENST00000650860.2:c.687del | ENSP00000498775.1:p.Leu230CysfsTer? | |
| ENST00000651385.1:c.687del | ENSP00000499005.1:p.Leu230CysfsTer? | |
| ENST00000674945.1:c.687del | ENSP00000502333.1:p.Leu230CysfsTer? | |
| ENST00000676337.1:c.687del | ENSP00000501728.1:p.Leu230CysfsTer? | |
| ENST00000389652.9:c.296del | ||
| ENST00000424120.5:c.834del | ENSP00000403465.1:p.Leu279CysfsTer? | |
| ENST00000503292.5:c.834del | ENSP00000421809.1:p.Leu279CysfsTer? | |
| ENST00000512702.5:c.834del | ENSP00000422875.1:p.Leu279CysfsTer? | |
| ENST00000513811.5:n.1014del | ||
| ENST00000634028.1:c.817del | ENSP00000488669.1:n.817del | |
| NM_001080522.2:c.834del , LRG_697t1:c.834del | NP_001073991.2:p.Leu279CysfsTer? | |
| XM_005248177.1:c.834del | XP_005248234.1:p.Leu279CysfsTer? | |
| XM_011513869.1:c.834del | XP_011512171.1:p.Leu279CysfsTer? | |
| XM_011513870.1:c.834del | XP_011512172.1:p.Leu279CysfsTer? | |
| XM_011513871.1:c.687del | XP_011512173.1:p.Leu230CysfsTer? | |
| XM_011513872.1:c.834del | XP_011512174.1:p.Leu279CysfsTer? | |
| XM_011513873.1:c.834del | XP_011512175.1:p.Leu279CysfsTer? | |
| XM_011513872.3:c.834del | XP_011512174.1:p.Leu279CysfsTer? | |
| XM_017008482.1:c.687del | XP_016863971.1:p.Leu230CysfsTer? | |
| XR_001741296.1:n.1034del | ||
| NM_001378615.1:c.834del MANE Select | NP_001365544.1:p.Leu279CysfsTer? | |
| NM_001378617.1:c.687del | NP_001365546.1:p.Leu230CysfsTer? |