Linked Data
ClinVar Variation Id:
316987
dbSNP Id:
rs3837692
gnomAD v2:
15-68500317-GACAC-G
gnomAD v3:
15-68207979-GACAC-G
gnomAD v4:
15-68207979-GACAC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68207996_68207999del , CM000677.2:g.68207996_68207999del | GRCh38 |
| NC_000015.9:g.68500334_68500337del , CM000677.1:g.68500334_68500337del | GRCh37 |
| NC_000015.8:g.66287388_66287391del | NCBI36 |
| NG_008764.2:g.54229_54232del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249806.11:c.*157_*160del MANE Select | ENSP00000249806.5:n.*157_*160del | |
| ENST00000562767.2:c.84-10355_84-10352del | ENSP00000456336.1:n.84-10355_84-10352del | |
| ENST00000565471.6:c.*157_*160del | ENSP00000457384.1:n.*157_*160del | |
| ENST00000636964.1:n.2621_2624del | ||
| ENST00000637054.1:c.199-10355_199-10352del | ENSP00000490807.1:n.199-10355_199-10352del | |
| ENST00000637329.1:c.1062_1065del | ||
| ENST00000637888.1:c.199-10355_199-10352del | ENSP00000490546.1:n.199-10355_199-10352del | |
| ENST00000638076.1:c.*696_*699del | ENSP00000490373.1:n.*696_*699del | |
| ENST00000646164.1:c.39-8302_39-8299del | ||
| ENST00000249806.9:c.*157_*160del | ENSP00000249806.5:n.*157_*160del | |
| ENST00000562767.1:c.84-10355_84-10352del | ENSP00000456336.1:n.84-10355_84-10352del | |
| ENST00000565471.5:c.*157_*160del | ENSP00000457384.1:n.*157_*160del | |
| ENST00000567060.5:c.*491_*494del | ENSP00000454818.1:n.*491_*494del | |
| NM_017882.2:c.*157_*160del | NP_060352.1:n.*157_*160del | |
| NM_017882.3:c.*157_*160del MANE Select | NP_060352.1:n.*157_*160del |