Linked Data
ClinVar Variation Id:
1802233
ClinVar RCV Id:
RCV002465046
gnomAD v4:
13-48412213-G-GTAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48412214_48412217dup , CM000675.2:g.48412214_48412217dup | GRCh38 |
| NC_000013.10:g.48986350_48986353dup , CM000675.1:g.48986350_48986353dup | GRCh37 |
| NC_000013.9:g.47884351_47884354dup | NCBI36 |
| NG_009009.1:g.113468_113471dup , LRG_517:g.113468_113471dup | |
| NG_012874.1:g.37488_37491dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1695+30771_1695+30774dup (RB1) MANE Select | ENSP00000267163.4:n.1695+30771_1695+30774dup | |
| ENST00000620633.5:c.207_210dup (LPAR6) MANE Select | ENSP00000482660.1:p.Pro71PhefsTer21 | |
| ENST00000643064.1:c.194+30771_194+30774dup (RB1) | ||
| ENST00000650461.1:c.1695+30771_1695+30774dup (RB1) | ENSP00000497193.1:n.1695+30771_1695+30774dup | |
| ENST00000267163.4:c.1695+30771_1695+30774dup (RB1) | ENSP00000267163.4:n.1695+30771_1695+30774dup | |
| ENST00000345941.2:c.207_210dup (LPAR6) | ENSP00000344353.2:p.Pro71PhefsTer21 | |
| ENST00000378434.8:c.207_210dup (LPAR6) | ENSP00000367691.3:p.Pro71PhefsTer21 | |
| ENST00000462781.5:n.114+3483_114+3486dup (LPAR6) | ||
| ENST00000465365.6:n.1069-3450_1069-3447dup (LPAR6) | ||
| ENST00000470937.1:n.117+3483_117+3486dup (LPAR6) | ||
| ENST00000482024.1:n.70-12_70-9dup (LPAR6) | ||
| ENST00000620633.4:c.207_210dup (LPAR6) | ENSP00000482660.1:p.Pro71PhefsTer21 | |
| NM_000321.2:c.1695+30771_1695+30774dup , LRG_517t1:c.1695+30771_1695+30774dup (RB1) | NP_000312.2:n.1695+30771_1695+30774dup | |
| NM_001162497.1:c.207_210dup (LPAR6) | NP_001155969.1:p.Pro71PhefsTer21 | |
| NM_001162498.1:c.207_210dup (LPAR6) | NP_001155970.1:p.Pro71PhefsTer21 | |
| NM_005767.5:c.207_210dup (LPAR6) | NP_005758.2:p.Pro71PhefsTer21 | |
| XM_011535171.1:c.1434+30771_1434+30774dup (RB1) | XP_011533473.1:n.1434+30771_1434+30774dup | |
| XM_011535171.2:c.1434+30771_1434+30774dup (RB1) | XP_011533473.1:n.1434+30771_1434+30774dup | |
| XM_024449302.1:c.207_210dup (LPAR6) | XP_024305070.1:p.Pro71PhefsTer21 | |
| XM_024449303.1:c.192+3483_192+3486dup (LPAR6) | XP_024305071.1:n.192+3483_192+3486dup | |
| XM_024449304.1:c.192+3483_192+3486dup (LPAR6) | XP_024305072.1:n.192+3483_192+3486dup | |
| NM_001162497.2:c.207_210dup (LPAR6) | NP_001155969.1:p.Pro71PhefsTer21 | |
| NM_001162498.2:c.207_210dup (LPAR6) | NP_001155970.1:p.Pro71PhefsTer21 | |
| NM_001377316.1:c.207_210dup (LPAR6) | NP_001364245.1:p.Pro71PhefsTer21 | |
| NM_001377317.1:c.207_210dup (LPAR6) | NP_001364246.1:p.Pro71PhefsTer21 | |
| NM_005767.6:c.207_210dup (LPAR6) | NP_005758.2:p.Pro71PhefsTer21 | |
| NM_000321.3:c.1695+30771_1695+30774dup (RB1) MANE Select | NP_000312.2:n.1695+30771_1695+30774dup | |
| NM_001162497.3:c.207_210dup (LPAR6) | NP_001155969.1:p.Pro71PhefsTer21 | |
| NM_001162498.3:c.207_210dup (LPAR6) MANE Select | NP_001155970.1:p.Pro71PhefsTer21 | |
| NM_001377316.2:c.207_210dup (LPAR6) | NP_001364245.1:p.Pro71PhefsTer21 | |
| NM_001377317.2:c.207_210dup (LPAR6) | NP_001364246.1:p.Pro71PhefsTer21 | |
| NM_005767.7:c.207_210dup (LPAR6) | NP_005758.2:p.Pro71PhefsTer21 |