Linked Data
dbSNP Id:
rs1387008520
gnomAD v2:
1-45444288-A-ATTCCCCCAAT
gnomAD v3:
1-44978616-A-ATTCCCCCAAT
gnomAD v4:
1-44978616-A-ATTCCCCCAAT
MyVariant Identifiers:
chr1:g.45444288_45444289insTTCCCCCAAT (hg19)
chr1:g.44978616_44978617insTTCCCCCAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978616_44978617insTTCCCCCAAT , CM000663.2:g.44978616_44978617insTTCCCCCAAT | GRCh38 |
| NC_000001.10:g.45444288_45444289insTTCCCCCAAT , CM000663.1:g.45444288_45444289insTTCCCCCAAT | GRCh37 |
| NC_000001.9:g.45216875_45216876insTTCCCCCAAT | NCBI36 |
| NG_015864.1:g.13073_13074insATTGGGGGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.149-157_149-156insATTGGGGGAA MANE Select | ENSP00000353575.2:n.149-157_149-156insATTGGGGGAA | |
| ENST00000360403.6:c.149-157_149-156insATTGGGGGAA | ENSP00000353575.2:n.149-157_149-156insATTGGGGGAA | |
| ENST00000372182.6:n.262-157_262-156insATTGGGGGAA | ||
| ENST00000372183.7:c.149-157_149-156insATTGGGGGAA | ENSP00000361257.3:n.149-157_149-156insATTGGGGGAA | |
| ENST00000477953.5:n.252-157_252-156insATTGGGGGAA | ||
| ENST00000480675.5:c.149-157_149-156insATTGGGGGAA | ENSP00000485842.1:n.149-157_149-156insATTGGGGGAA | |
| ENST00000487532.5:n.261-157_261-156insATTGGGGGAA | ||
| ENST00000497010.1:n.261-157_261-156insATTGGGGGAA | ||
| ENST00000620860.4:c.149-157_149-156insATTGGGGGAA | ENSP00000483996.1:n.149-157_149-156insATTGGGGGAA | |
| NM_001166588.2:c.149-157_149-156insATTGGGGGAA | NP_001160060.1:n.149-157_149-156insATTGGGGGAA | |
| NM_001261418.1:c.149-157_149-156insATTGGGGGAA | NP_001248347.1:n.149-157_149-156insATTGGGGGAA | |
| NM_020365.4:c.149-157_149-156insATTGGGGGAA | NP_065098.1:n.149-157_149-156insATTGGGGGAA | |
| XM_011542396.1:c.149-157_149-156insATTGGGGGAA | XP_011540698.1:n.149-157_149-156insATTGGGGGAA | |
| XM_017002745.2:c.149-157_149-156insATTGGGGGAA | XP_016858234.1:n.149-157_149-156insATTGGGGGAA | |
| XM_017002746.1:c.-306-157_-306-156insATTGGGGGAA | XP_016858235.1:n.-306-157_-306-156insATTGGGGGAA | |
| XM_017002747.1:c.-306-157_-306-156insATTGGGGGAA | XP_016858236.1:n.-306-157_-306-156insATTGGGGGAA | |
| NM_020365.5:c.149-157_149-156insATTGGGGGAA MANE Select | NP_065098.1:n.149-157_149-156insATTGGGGGAA | |
| NM_001166588.3:c.149-157_149-156insATTGGGGGAA | NP_001160060.1:n.149-157_149-156insATTGGGGGAA | |
| NM_001261418.2:c.149-157_149-156insATTGGGGGAA | NP_001248347.1:n.149-157_149-156insATTGGGGGAA |