Linked Data
ClinVar Variation Id:
56174
ClinVar RCV Id:
RCV000049585
dbSNP Id:
rs386833625
gnomAD v4:
1-40097124-GC-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097126del , CM000663.2:g.40097126del | GRCh38 |
| NC_000001.10:g.40562798del , CM000663.1:g.40562798del | GRCh37 |
| NC_000001.9:g.40335385del | NCBI36 |
| NG_009192.1:g.5346del , LRG_690:g.5346del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.114del | ENSP00000361865.5:p.Trp38CysfsTer? | |
| ENST00000433473.8:c.114del | ENSP00000394863.4:p.Trp38CysfsTer11 | |
| ENST00000439754.6:c.114del | ENSP00000403207.2:p.Trp38CysfsTer12 | |
| ENST00000449045.7:c.114del | ENSP00000392293.2:p.Trp38CysfsTer27 | |
| ENST00000526547.2:c.88del | ||
| ENST00000527311.7:c.114del | ENSP00000436695.3:p.Trp38CysfsTer12 | |
| ENST00000530704.6:c.114del | ENSP00000431655.1:p.Trp38CysfsTer12 | |
| ENST00000641083.1:c.92del | ||
| ENST00000641236.1:n.126del | ||
| ENST00000641319.1:c.114del | ENSP00000493128.1:p.Trp38CysfsTer12 | |
| ENST00000641471.1:c.114del | ENSP00000493146.1:p.Trp38CysfsTer? | |
| ENST00000641548.1:c.114del | ENSP00000492984.1:p.Trp38CysfsTer15 | |
| ENST00000641691.1:c.114del | ENSP00000492910.1:p.Trp38CysfsTer15 | |
| ENST00000641924.1:c.114del | ENSP00000493063.1:p.Trp38CysfsTer13 | |
| ENST00000642050.2:c.114del MANE Select | ENSP00000493153.1:p.Trp38CysfsTer12 | |
| ENST00000372779.8:c.114del | ENSP00000361865.4:p.Trp38CysfsTer? | |
| ENST00000433473.7:c.114del | ENSP00000394863.3:p.Trp38CysfsTer12 | |
| ENST00000449045.6:c.114del | ENSP00000392293.2:p.Trp38CysfsTer27 | |
| ENST00000527311.6:c.114del | ENSP00000436695.2:p.Trp38CysfsTer9 | |
| ENST00000529905.5:c.114del | ENSP00000432053.1:p.Trp38CysfsTer12 | |
| ENST00000530704.5:c.114del | ENSP00000431655.1:p.Trp38CysfsTer12 | |
| NM_000310.3:c.114del , LRG_690t1:c.114del | NP_000301.1:p.Trp38CysfsTer12 | |
| NM_001142604.1:c.114del | NP_001136076.1:p.Trp38CysfsTer27 | |
| XM_005271008.1:c.114del | XP_005271065.1:p.Trp38CysfsTer12 | |
| NM_001363695.1:c.114del | NP_001350624.1:p.Trp38CysfsTer12 | |
| NM_000310.4:c.114del MANE Select | NP_000301.1:p.Trp38CysfsTer12 | |
| NM_001142604.2:c.114del | NP_001136076.1:p.Trp38CysfsTer27 | |
| NM_001363695.2:c.114del | NP_001350624.1:p.Trp38CysfsTer12 |