Linked Data
dbSNP Id:
rs773089224
ExAC:
17:42985330 CT / C
gnomAD v2:
17-42985330-CT-C
gnomAD v3:
17-44907962-CT-C
gnomAD v4:
17-44907962-CT-C
MyVariant Identifiers:
chr17:g.42985331del (hg19)
chr17:g.42985331_42985334delinsGGG (hg19)
chr17:g.44907963del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44907963del , CM000679.2:g.44907963del | GRCh38 |
| NC_000017.10:g.42985331del , CM000679.1:g.42985331del | GRCh37 |
| NC_000017.9:g.40340857del | NCBI36 |
| NG_008401.1:g.12584del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1377+101del | ENSP00000253408.5:n.1377+101del | |
| ENST00000253408.10:c.1377+101del | ENSP00000253408.5:n.1377+101del | |
| ENST00000441312.2:n.110+101del | ||
| ENST00000585543.6:n.410+101del | ||
| ENST00000586125.2:c.293del | ENSP00000467397.2:p.Gln98ArgfsTer5 | |
| ENST00000588735.3:c.1257+101del MANE Select | ENSP00000466598.2:n.1257+101del | |
| ENST00000589701.2:n.2164+101del | ||
| ENST00000591880.2:c.457del | ||
| ENST00000592065.2:n.625+101del | ||
| ENST00000638304.1:c.176+101del | ||
| ENST00000638400.1:c.92+101del | ||
| ENST00000638488.1:n.721+101del | ||
| ENST00000638618.1:c.912+101del | ENSP00000492832.1:n.912+101del | |
| ENST00000638921.1:n.285del | ||
| ENST00000639042.1:c.229+101del | ||
| ENST00000639243.1:c.13+101del | ||
| ENST00000639277.1:c.1257+101del | ENSP00000492432.1:n.1257+101del | |
| ENST00000639369.1:c.107+101del | ||
| ENST00000640545.1:c.63+101del | ENSP00000491735.1:n.63+101del | |
| ENST00000640859.1:c.71+101del | ||
| ENST00000253408.9:c.1257+101del | ENSP00000253408.4:n.1257+101del | |
| ENST00000585543.5:n.410+101del | ||
| ENST00000588735.1:c.135+101del | ENSP00000466598.1:n.135+101del | |
| ENST00000589701.1:n.159+101del | ||
| ENST00000591880.1:c.224del | ENSP00000467530.1:p.Gln75ArgfsTer5 | |
| ENST00000592065.1:n.51+101del | ||
| ENST00000592706.5:n.129+101del | ||
| NM_002055.4:c.1257+101del | NP_002046.1:n.1257+101del | |
| NM_001363846.1:c.1377+101del | NP_001350775.1:n.1377+101del | |
| XM_024450690.1:c.1581+101del | XP_024306458.1:n.1581+101del | |
| XM_024450692.1:c.1461+101del | XP_024306460.1:n.1461+101del | |
| NM_002055.5:c.1257+101del MANE Select | NP_002046.1:n.1257+101del | |
| NM_001363846.2:c.1377+101del | NP_001350775.1:n.1377+101del |