Linked Data
ClinVar Variation Id:
97485
dbSNP Id:
rs104895093
gnomAD v2:
16-3293408-CATT-C
gnomAD v4:
16-3243408-CATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243411_3243413del , CM000678.2:g.3243411_3243413del | GRCh38 |
| NC_000016.9:g.3293411_3293413del , CM000678.1:g.3293411_3293413del | GRCh37 |
| NC_000016.8:g.3233412_3233414del | NCBI36 |
| NG_007871.1:g.18217_18219del , LRG_190:g.18217_18219del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1197_1199del | ||
| ENST00000219596.6:c.2076_2078del MANE Select | ENSP00000219596.1:p.Ile692del | |
| ENST00000219596.5:c.2076_2078del | ENSP00000219596.1:p.Ile692del | |
| ENST00000339854.8:c.1536_1538del | ENSP00000339639.4:p.Ile512del | |
| ENST00000536379.5:c.1443_1445del | ENSP00000445079.1:p.Ile481del | |
| ENST00000536980.5:c.*352_*354del | ENSP00000444178.1:n.*352_*354del | |
| ENST00000537682.5:c.*352_*354del | ENSP00000438611.1:n.*352_*354del | |
| ENST00000538326.5:c.*701_*703del | ENSP00000437486.1:n.*701_*703del | |
| ENST00000539145.5:c.997_999del | ENSP00000444471.1:n.997_999del | |
| ENST00000541159.5:c.1618_1620del | ENSP00000438711.1:n.1618_1620del | |
| ENST00000542898.5:c.*352_*354del | ENSP00000444615.1:n.*352_*354del | |
| ENST00000570511.5:c.1481_1483del | ENSP00000458312.1:n.1481_1483del | |
| ENST00000572244.5:c.766_768del | ENSP00000461186.1:n.766_768del | |
| ENST00000574583.5:c.848_850del | ENSP00000460269.1:n.848_850del | |
| ENST00000576315.5:c.881_883del | ENSP00000460551.1:n.881_883del | |
| ENST00000621655.1:c.1613_1615del | ENSP00000481436.1:n.1613_1615del | |
| NM_000243.2:c.2076_2078del , LRG_190t1:c.2076_2078del | NP_000234.1:p.Ile692del | |
| NM_001198536.1:c.*280_*282del | NP_001185465.1:n.*280_*282del | |
| XM_017023236.2:c.2073_2075del | XP_016878725.1:p.Ile691del | |
| NM_000243.3:c.2076_2078del MANE Select | NP_000234.1:p.Ile692del | |
| NM_001198536.2:c.*280_*282del | NP_001185465.2:n.*280_*282del |