Linked Data
ClinVar Variation Id:
7056
ClinVar RCV Id:
RCV000007472
dbSNP Id:
rs730882182
gnomAD v2:
2-135926201-AC-A
gnomAD v3:
2-135168631-AC-A
gnomAD v4:
2-135168631-AC-A
MyVariant Identifiers:
chr2:g.135926206del (hg19)
chr2:g.135926202del (hg19)
chr2:g.135168636del (hg38)
chr2:g.135168632del (hg38)
PubMed:
PMID:15696165
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135168636del , CM000664.2:g.135168636del | GRCh38 |
| NC_000002.11:g.135926206del , CM000664.1:g.135926206del | GRCh37 |
| NC_000002.10:g.135642676del | NCBI36 |
| NG_016972.1:g.121372del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539493.3:c.2801del (RAB3GAP1) | ENSP00000444306.2:p.Pro934LeufsTer? | |
| ENST00000685652.1:n.3440del (RAB3GAP1) | ||
| ENST00000685874.1:n.273del (RAB3GAP1) | ||
| ENST00000685967.1:c.*2258del (RAB3GAP1) | ENSP00000508423.1:n.*2258del | |
| ENST00000687199.1:c.*2890del (RAB3GAP1) | ENSP00000510319.1:n.*2890del | |
| ENST00000688088.1:n.5983del (RAB3GAP1) | ||
| ENST00000688182.1:c.263del (RAB3GAP1) | ENSP00000509324.1:p.Pro88LeufsTer? | |
| ENST00000689187.1:n.2474del (RAB3GAP1) | ||
| ENST00000690208.1:c.*2479del (RAB3GAP1) | ENSP00000510746.1:n.*2479del | |
| ENST00000691339.1:c.*2445del (RAB3GAP1) | ENSP00000509953.1:n.*2445del | |
| ENST00000691478.1:c.*2900del (RAB3GAP1) | ENSP00000509081.1:n.*2900del | |
| ENST00000692993.1:n.380del (RAB3GAP1) | ||
| ENST00000693554.1:c.*624del (RAB3GAP1) | ENSP00000509030.1:n.*624del | |
| ENST00000264158.13:c.2801del (RAB3GAP1) MANE Select | ENSP00000264158.8:p.Pro934LeufsTer? | |
| ENST00000264158.12:c.2801del (RAB3GAP1) | ENSP00000264158.7:p.Pro934LeufsTer? | |
| ENST00000412849.5:n.1782-3478del (ZRANB3) | ||
| ENST00000442034.5:c.2822del (RAB3GAP1) | ENSP00000411418.1:p.Pro941LeufsTer? | |
| ENST00000487003.5:n.2870del (RAB3GAP1) | ||
| ENST00000497080.1:n.89del (RAB3GAP1) | ||
| ENST00000539493.2:c.2669del (RAB3GAP1) | ENSP00000444306.1:p.Pro890LeufsTer? | |
| ENST00000619650.4:c.1618-3478del (ZRANB3) | ENSP00000480120.1:n.1618-3478del | |
| NM_001172435.1:c.2822del (RAB3GAP1) | NP_001165906.1:p.Pro941LeufsTer? | |
| NM_012233.2:c.2801del (RAB3GAP1) | NP_036365.1:p.Pro934LeufsTer? | |
| XM_011510822.1:c.2822del (RAB3GAP1) | XP_011509124.1:p.Pro941LeufsTer? | |
| XM_011510823.1:c.2801del (RAB3GAP1) | XP_011509125.1:p.Pro934LeufsTer? | |
| XM_011510824.1:c.2822del (RAB3GAP1) | XP_011509126.1:p.Pro941LeufsTer? | |
| XM_011510825.1:c.2801del (RAB3GAP1) | XP_011509127.1:p.Pro934LeufsTer? | |
| XM_011510823.3:c.2801del (RAB3GAP1) | XP_011509125.1:p.Pro934LeufsTer? | |
| XM_011510825.3:c.2801del (RAB3GAP1) | XP_011509127.1:p.Pro934LeufsTer? | |
| XM_011511966.3:c.3049-3478del (ZRANB3) | XP_011510268.2:n.3049-3478del | |
| XR_001738674.2:n.2828del (RAB3GAP1) | ||
| NM_001172435.2:c.2822del (RAB3GAP1) | NP_001165906.1:p.Pro941LeufsTer? | |
| NM_012233.3:c.2801del (RAB3GAP1) MANE Select | NP_036365.1:p.Pro934LeufsTer? |