Linked Data
ClinVar Variation Id:
803104
ClinVar RCV Id:
RCV000989351
dbSNP Id:
rs1595816465
gnomAD v3:
15-68208238-GC-G
gnomAD v4:
15-68208238-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68208240del , CM000677.2:g.68208240del | GRCh38 |
| NC_000015.9:g.68500578del , CM000677.1:g.68500578del | GRCh37 |
| NC_000015.8:g.66287632del | NCBI36 |
| NG_008764.2:g.53973del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.837del MANE Select | ENSP00000249806.5:p.Trp279CysfsTer? | |
| ENST00000562767.2:c.84-10611del | ENSP00000456336.1:n.84-10611del | |
| ENST00000565471.6:c.378del | ENSP00000457384.1:p.Trp126CysfsTer? | |
| ENST00000635747.1:c.*740del | ENSP00000490627.1:n.*740del | |
| ENST00000636212.1:c.*507del | ENSP00000489851.1:n.*507del | |
| ENST00000636674.1:n.1939del | ||
| ENST00000636964.1:n.2365del | ||
| ENST00000637054.1:c.198+10297del | ENSP00000490807.1:n.198+10297del | |
| ENST00000637329.1:c.806del | ||
| ENST00000637450.1:c.*491del | ENSP00000490204.1:n.*491del | |
| ENST00000637494.1:c.549del | ENSP00000490057.1:p.Trp183CysfsTer? | |
| ENST00000637667.1:c.738del | ENSP00000489843.1:p.Trp246CysfsTer? | |
| ENST00000637823.1:c.662del | ||
| ENST00000637888.1:c.198+10297del | ENSP00000490546.1:n.198+10297del | |
| ENST00000638076.1:c.*440del | ENSP00000490373.1:n.*440del | |
| ENST00000638144.1:n.480del | ||
| ENST00000646164.1:c.39-8558del | ||
| ENST00000249806.9:c.837del | ENSP00000249806.5:p.Trp279CysfsTer? | |
| ENST00000538696.5:c.933del | ENSP00000445770.1:p.Trp311CysfsTer? | |
| ENST00000562767.1:c.84-10611del | ENSP00000456336.1:n.84-10611del | |
| ENST00000565471.5:c.378del | ENSP00000457384.1:p.Trp126CysfsTer? | |
| ENST00000566347.5:c.648del | ENSP00000457783.1:p.Trp216CysfsTer? | |
| ENST00000567060.5:c.*235del | ENSP00000454818.1:n.*235del | |
| NM_017882.2:c.837del | NP_060352.1:p.Trp279CysfsTer? | |
| NM_017882.3:c.837del MANE Select | NP_060352.1:p.Trp279CysfsTer? |