Linked Data
dbSNP Id:
rs2088697438
gnomAD v3:
19-55308366-G-GTACCTGGCTCCAA
gnomAD v4:
19-55308366-G-GTACCTGGCTCCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55308366_55308367insTACCTGGCTCCAA , CM000681.2:g.55308366_55308367insTACCTGGCTCCAA | GRCh38 |
| NC_000019.9:g.55819734_55819735insTACCTGGCTCCAA , CM000681.1:g.55819734_55819735insTACCTGGCTCCAA | GRCh37 |
| NC_000019.8:g.60511546_60511547insTACCTGGCTCCAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309383.6:c.2090-273_2090-272insTACCTGGCTCCAA MANE Select | ENSP00000310649.1:n.2090-273_2090-272insTACCTGGCTCCAA | |
| ENST00000309383.5:c.2090-273_2090-272insTACCTGGCTCCAA | ENSP00000310649.1:n.2090-273_2090-272insTACCTGGCTCCAA | |
| ENST00000326848.7:c.1175-273_1175-272insTACCTGGCTCCAA | ENSP00000320853.7:n.1175-273_1175-272insTACCTGGCTCCAA | |
| ENST00000590333.5:c.2138-273_2138-272insTACCTGGCTCCAA | ENSP00000468190.1:n.2138-273_2138-272insTACCTGGCTCCAA | |
| NM_032430.1:c.2090-273_2090-272insTACCTGGCTCCAA | NP_115806.1:n.2090-273_2090-272insTACCTGGCTCCAA | |
| XM_005259327.2:c.1820-273_1820-272insTACCTGGCTCCAA | XP_005259384.1:n.1820-273_1820-272insTACCTGGCTCCAA | |
| XM_011527395.1:c.1847-273_1847-272insTACCTGGCTCCAA | XP_011525697.1:n.1847-273_1847-272insTACCTGGCTCCAA | |
| XR_430213.2:n.2073-273_2073-272insTACCTGGCTCCAA | ||
| XM_005259327.3:c.1820-273_1820-272insTACCTGGCTCCAA | XP_005259384.1:n.1820-273_1820-272insTACCTGGCTCCAA | |
| XM_011527395.2:c.1562-273_1562-272insTACCTGGCTCCAA | XP_011525697.2:n.1562-273_1562-272insTACCTGGCTCCAA | |
| XM_024451739.1:c.1865-273_1865-272insTACCTGGCTCCAA | XP_024307507.1:n.1865-273_1865-272insTACCTGGCTCCAA | |
| XR_430213.4:n.2371-273_2371-272insTACCTGGCTCCAA | ||
| NM_032430.2:c.2090-273_2090-272insTACCTGGCTCCAA MANE Select | NP_115806.1:n.2090-273_2090-272insTACCTGGCTCCAA |