Linked Data
dbSNP Id:
rs1208714712
gnomAD v2:
13-48997599-CAT-C
gnomAD v3:
13-48423463-CAT-C
gnomAD v4:
13-48423463-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48423464_48423465del , CM000675.2:g.48423464_48423465del | GRCh38 |
| NC_000013.10:g.48997600_48997601del , CM000675.1:g.48997600_48997601del | GRCh37 |
| NC_000013.9:g.47895601_47895602del | NCBI36 |
| NG_009009.1:g.124718_124719del , LRG_517:g.124718_124719del | |
| NG_012874.1:g.26240_26241del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000267163.6:c.1696-29529_1696-29528del (RB1) MANE Select | ENSP00000267163.4:n.1696-29529_1696-29528... | |
| ENST00000643064.1:c.194+42021_194+42022del (RB1) | ||
| ENST00000650461.1:c.1696-29529_1696-29528del (RB1) | ENSP00000497193.1:n.1696-29529_1696-29528... | |
| ENST00000267163.4:c.1696-29529_1696-29528del (RB1) | ENSP00000267163.4:n.1696-29529_1696-29528... | |
| ENST00000345941.2:c.-1094-675_-1094-674del (LPAR6) | ENSP00000344353.2:n.-1094-675_-1094-674de... | |
| ENST00000378434.8:c.-1347+528_-1347+529del (LPAR6) | ENSP00000367691.3:n.-1347+528_-1347+529de... | |
| ENST00000465365.6:n.662+528_662+529del (LPAR6) | ||
| NM_000321.2:c.1696-29529_1696-29528del , LRG_517t1:c.1696-29529_1696-29528del (RB1) | NP_000312.2:n.1696-29529_1696-29528del | |
| NM_001162497.1:c.-1094-675_-1094-674del (LPAR6) | NP_001155969.1:n.-1094-675_-1094-674del | |
| NM_005767.5:c.-1347+528_-1347+529del (LPAR6) | NP_005758.2:n.-1347+528_-1347+529del | |
| XM_011535171.1:c.1435-29529_1435-29528del (RB1) | XP_011533473.1:n.1435-29529_1435-29528del... | |
| XM_011535171.2:c.1435-29529_1435-29528del (RB1) | XP_011533473.1:n.1435-29529_1435-29528del... | |
| NM_001162497.2:c.-1094-675_-1094-674del (LPAR6) | NP_001155969.1:n.-1094-675_-1094-674del | |
| NM_001377316.1:c.-1094-675_-1094-674del (LPAR6) | NP_001364245.1:n.-1094-675_-1094-674del | |
| NM_001377317.1:c.-1094-675_-1094-674del (LPAR6) | NP_001364246.1:n.-1094-675_-1094-674del | |
| NM_005767.6:c.-1347+528_-1347+529del (LPAR6) | NP_005758.2:n.-1347+528_-1347+529del | |
| NM_000321.3:c.1696-29529_1696-29528del (RB1) MANE Select | NP_000312.2:n.1696-29529_1696-29528del | |
| NM_001162497.3:c.-1094-675_-1094-674del (LPAR6) | NP_001155969.1:n.-1094-675_-1094-674del | |
| NM_001377316.2:c.-1094-675_-1094-674del (LPAR6) | NP_001364245.1:n.-1094-675_-1094-674del | |
| NM_001377317.2:c.-1094-675_-1094-674del (LPAR6) | NP_001364246.1:n.-1094-675_-1094-674del | |
| NM_005767.7:c.-1347+528_-1347+529del (LPAR6) | NP_005758.2:n.-1347+528_-1347+529del |