Linked Data
dbSNP Id:
rs1371703676
gnomAD v2:
16-29832973-TTG-T
gnomAD v3:
16-29821652-TTG-T
gnomAD v4:
16-29821652-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29821655_29821656del , CM000678.2:g.29821655_29821656del | GRCh38 |
| NC_000016.9:g.29832976_29832977del , CM000678.1:g.29832976_29832977del | GRCh37 |
| NC_000016.8:g.29740477_29740478del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320330.8:c.*1901_*1902del (PAGR1) MANE Select | ENSP00000326519.6:n.*1901_*1902del | |
| ENST00000357402.10:c.-36+1145_-36+1146del (MVP) MANE Select | ENSP00000349977.5:n.-36+1145_-36+1146del | |
| ENST00000357402.9:c.-36+1145_-36+1146del (MVP) | ENSP00000349977.5:n.-36+1145_-36+1146del | |
| ENST00000395353.5:c.-77+1145_-77+1146del (MVP) | ENSP00000378760.1:n.-77+1145_-77+1146del | |
| ENST00000562285.1:c.402+1753_402+1754del | ||
| ENST00000562463.5:c.-36+1145_-36+1146del (MVP) | ENSP00000457734.1:n.-36+1145_-36+1146del | |
| ENST00000563096.1:n.45+1145_45+1146del (MVP) | ||
| ENST00000563558.5:c.-77+1145_-77+1146del (MVP) | ENSP00000454825.1:n.-77+1145_-77+1146del | |
| ENST00000563915.5:c.-77+1145_-77+1146del (MVP) | ENSP00000455819.1:n.-77+1145_-77+1146del | |
| ENST00000565164.1:c.-36+282_-36+283del (MVP) | ENSP00000454819.1:n.-36+282_-36+283del | |
| ENST00000565830.5:n.34+1145_34+1146del (MVP) | ||
| ENST00000566066.5:c.-228+1145_-228+1146del (MVP) | ENSP00000455186.1:n.-228+1145_-228+1146del | |
| ENST00000566859.5:c.-36+1145_-36+1146del (MVP) | ENSP00000455741.1:n.-36+1145_-36+1146del | |
| ENST00000569887.1:c.-36+1145_-36+1146del (MVP) | ENSP00000455532.1:n.-36+1145_-36+1146del | |
| ENST00000570234.5:c.-146+264_-146+265del (MVP) | ENSP00000456291.1:n.-146+264_-146+265del | |
| NM_005115.4:c.-36+1145_-36+1146del (MVP) | NP_005106.2:n.-36+1145_-36+1146del | |
| NM_017458.3:c.-77+1145_-77+1146del (MVP) | NP_059447.2:n.-77+1145_-77+1146del | |
| NM_024516.3:c.*1901_*1902del (PAGR1) | NP_078792.1:n.*1901_*1902del | |
| NM_005115.5:c.-36+1145_-36+1146del (MVP) MANE Select | NP_005106.2:n.-36+1145_-36+1146del | |
| NM_024516.4:c.*1901_*1902del (PAGR1) MANE Select | NP_078792.1:n.*1901_*1902del |