Linked Data
dbSNP Id:
rs62508727
ExAC:
12:103288578 TTGA / T
gnomAD v2:
12-103288578-TTGA-T
gnomAD v3:
12-102894800-TTGA-T
gnomAD v4:
12-102894800-TTGA-T
MyVariant Identifiers:
chr12:g.103288579_103288581del (hg19)
chr12:g.103288579_103288581delTGA (hg19)
chr12:g.102894802_102894804del (hg38)
chr12:g.102894801_102894803del (hg38)
ERepo:
CA251535/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894806_102894808del , CM000674.2:g.102894806_102894808del | GRCh38 |
| NC_000012.11:g.103288584_103288586del , CM000674.1:g.103288584_103288586del | GRCh37 |
| NC_000012.10:g.101812714_101812716del | NCBI36 |
| NG_008690.1:g.27800_27802del | |
| NG_008690.2:g.68608_68610del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.284_286del MANE Select | ENSP00000448059.1:p.Ile95del | |
| ENST00000307000.7:c.269_271del | ENSP00000303500.2:p.Ile90del | |
| ENST00000546844.1:c.284_286del | ENSP00000446658.1:p.Ile95del | |
| ENST00000548677.2:n.371_373del | ||
| ENST00000548928.1:n.206_208del | ||
| ENST00000549111.5:n.380_382del | ||
| ENST00000550978.6:c.268_270del | ||
| ENST00000551337.5:c.284_286del | ENSP00000447620.1:p.Ile95del | |
| ENST00000551988.5:n.373_375del | ||
| ENST00000553106.5:c.284_286del | ENSP00000448059.1:p.Ile95del | |
| NM_000277.1:c.284_286del | NP_000268.1:p.Ile95del | |
| XM_011538422.1:c.284_286del | XP_011536724.1:p.Ile95del | |
| NM_000277.2:c.284_286del | NP_000268.1:p.Ile95del | |
| NM_001354304.1:c.284_286del | NP_001341233.1:p.Ile95del | |
| XM_017019370.2:c.284_286del | XP_016874859.1:p.Ile95del | |
| NM_000277.3:c.284_286del MANE Select | NP_000268.1:p.Ile95del | |
| NM_001354304.2:c.284_286del | NP_001341233.1:p.Ile95del |