Linked Data
dbSNP Id:
rs1242234253
gnomAD v2:
19-41198277-GC-G
gnomAD v3:
19-40692372-GC-G
gnomAD v4:
19-40692372-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40692374del , CM000681.2:g.40692374del | GRCh38 |
| NC_000019.9:g.41198279del , CM000681.1:g.41198279del | GRCh37 |
| NC_000019.8:g.45890119del | NCBI36 |
| NG_027800.1:g.29513del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1297del | ||
| ENST00000593724.2:n.3120del | ||
| ENST00000594490.6:c.1219del | ||
| ENST00000594720.6:c.1297del | ||
| ENST00000596455.6:n.1589del | ||
| ENST00000601967.6:c.1297del | ||
| ENST00000676555.1:c.*722del | ||
| ENST00000676578.1:c.*1039del | ||
| ENST00000676960.1:n.1422del | ||
| ENST00000676962.1:n.1576del | ||
| ENST00000677018.1:c.1297del | ||
| ENST00000677039.1:n.3500del | ||
| ENST00000677399.1:n.1739del | ||
| ENST00000677496.1:c.970del | ||
| ENST00000677517.1:c.970del | ||
| ENST00000677633.1:c.*720del | ||
| ENST00000677800.1:c.*4401del | ||
| ENST00000678057.1:c.*861del | ||
| ENST00000678119.1:n.1491del | ||
| ENST00000678166.1:n.1440del | ||
| ENST00000678312.1:n.1634del | ||
| ENST00000678316.1:c.*720del | ||
| ENST00000678371.1:n.1747del | ||
| ENST00000678404.1:c.1297del | ||
| ENST00000678419.1:c.1297del | ||
| ENST00000678433.1:n.1653del | ||
| ENST00000678467.1:c.1297del | ||
| ENST00000678569.1:c.*282del | ||
| ENST00000678961.1:n.1652del | ||
| ENST00000679002.1:n.1476del | ||
| ENST00000679012.1:c.853del | ||
| ENST00000679070.1:c.*716del | ||
| ENST00000679130.1:c.1297del | ||
| ENST00000679315.1:c.*1127del | ||
| ENST00000243583.10:c.1174del | ||
| ENST00000324464.7:c.1297del | ||
| ENST00000593724.1:n.1412del | ||
| NM_001142555.2:c.1174del | ||
| NM_024876.3:c.1297del | ||
| XM_005259270.3:c.1459del | ||
| XM_005259271.3:c.1297del | ||
| XM_005259272.3:c.1297del | ||
| XM_005259273.3:c.1297del | ||
| XM_006723392.2:c.1297del | ||
| XM_006723393.2:c.1297del | ||
| XM_011527334.1:c.1297del | ||
| XM_011527335.1:c.1156del | ||
| XM_011527336.1:c.1327del | ||
| XM_011527337.1:c.1297del | ||
| XM_011527338.1:c.1297del | ||
| NM_024876.4:c.1297del | ||
| NM_001142555.3:c.1174del |