Linked Data
ClinVar Variation Id:
65732
ClinVar RCV Id:
RCV000055962
dbSNP Id:
rs137852721
PubMed:
PMID:20945554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137811611_137811612del , CM000671.2:g.137811611_137811612del | GRCh38 |
| NC_000009.11:g.140706063_140706064del , CM000671.1:g.140706063_140706064del | GRCh37 |
| NC_000009.10:g.139825884_139825885del | NCBI36 |
| NG_011776.1:g.197620_197621del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000460843.6:c.2863_2864del MANE Select | ENSP00000417980.1:p.Val955ArgfsTer? | |
| ENST00000636027.1:c.2749_2750del | ENSP00000489961.1:p.Val917ArgfsTer? | |
| ENST00000637161.1:c.2770_2771del | ENSP00000490328.1:p.Val924ArgfsTer? | |
| ENST00000637261.1:c.2903_2904del | ENSP00000490815.1:n.2903_2904del | |
| ENST00000637891.1:c.757_758del | ENSP00000490907.1:p.Val253ArgfsTer? | |
| ENST00000460843.5:c.2863_2864del | ENSP00000417980.1:p.Val955ArgfsTer? | |
| ENST00000462942.3:c.1720_1721del | ENSP00000436107.1:p.Val574ArgfsTer? | |
| ENST00000486164.5:c.550_551del | ||
| ENST00000488242.2:n.389_390del | ||
| NM_024757.4:c.2863_2864del | NP_079033.4:p.Val955ArgfsTer? | |
| XM_005266105.3:c.2854_2855del | XP_005266162.1:p.Val952ArgfsTer? | |
| XM_005266110.1:c.2770_2771del | XP_005266167.1:p.Val924ArgfsTer? | |
| XM_006717288.2:c.2845_2846del | XP_006717351.1:p.Val949ArgfsTer? | |
| XM_011519021.1:c.2872_2873del | XP_011517323.1:p.Val958ArgfsTer? | |
| XM_011519022.1:c.2869_2870del | XP_011517324.1:p.Val957ArgfsTer? | |
| XM_011519023.1:c.2851_2852del | XP_011517325.1:p.Val951ArgfsTer? | |
| XM_011519024.1:c.2794_2795del | XP_011517326.1:p.Val932ArgfsTer? | |
| XM_011519025.1:c.2770_2771del | XP_011517327.1:p.Val924ArgfsTer? | |
| XM_011519026.1:c.2728_2729del | XP_011517328.1:p.Val910ArgfsTer? | |
| XM_011519029.1:c.1294_1295del | XP_011517331.1:p.Val432ArgfsTer? | |
| XM_011519030.1:c.646_647del | XP_011517332.1:p.Val216ArgfsTer? | |
| XM_011519031.1:c.433_434del | XP_011517333.1:p.Val145ArgfsTer? | |
| XM_011519032.1:c.433_434del | XP_011517334.1:p.Val145ArgfsTer? | |
| XM_011519033.1:c.2707_2708del | XP_011517335.1:p.Val903ArgfsTer? | |
| NM_001354263.1:c.2842_2843del | NP_001341192.1:p.Val948ArgfsTer? | |
| XM_005266105.5:c.2854_2855del | XP_005266162.1:p.Val952ArgfsTer? | |
| XM_011519021.3:c.2872_2873del | XP_011517323.1:p.Val958ArgfsTer? | |
| XM_011519022.3:c.2869_2870del | XP_011517324.1:p.Val957ArgfsTer? | |
| XM_011519023.3:c.2851_2852del | XP_011517325.1:p.Val951ArgfsTer? | |
| XM_011519029.3:c.1294_1295del | XP_011517331.1:p.Val432ArgfsTer? | |
| XM_011519030.3:c.646_647del | XP_011517332.1:p.Val216ArgfsTer? | |
| XM_017015134.1:c.2848_2849del | XP_016870623.1:p.Val950ArgfsTer? | |
| XM_017015136.2:c.2764_2765del | XP_016870625.1:p.Val922ArgfsTer? | |
| XM_017015137.1:c.2749_2750del | XP_016870626.1:p.Val917ArgfsTer? | |
| XM_017015138.1:c.2749_2750del | XP_016870627.1:p.Val917ArgfsTer? | |
| XM_024447674.1:c.2692_2693del | XP_024303442.1:p.Val898ArgfsTer? | |
| XM_024447675.1:c.2626_2627del | XP_024303443.1:p.Val876ArgfsTer? | |
| XM_024447676.1:c.1987_1988del | XP_024303444.1:p.Val663ArgfsTer? | |
| XM_024447677.1:c.1987_1988del | XP_024303445.1:p.Val663ArgfsTer? | |
| XM_024447680.1:c.2605_2606del | XP_024303448.1:p.Val869ArgfsTer? | |
| NM_024757.5:c.2863_2864del MANE Select | NP_079033.4:p.Val955ArgfsTer? | |
| NM_001354263.2:c.2842_2843del | NP_001341192.1:p.Val948ArgfsTer? |