Linked Data
ClinVar Variation Id:
3004658
ClinVar RCV Id:
RCV003860761
gnomAD v4:
16-1362248-TCCGAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362255_1362259del , CM000678.2:g.1362255_1362259del | GRCh38 |
| NC_000016.9:g.1412256_1412260del , CM000678.1:g.1412256_1412260del | GRCh37 |
| NC_000016.8:g.1352257_1352261del | NCBI36 |
| NG_016985.1:g.15357_15361del | |
| NG_033129.1:g.57452_57456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.560_564del | ||
| ENST00000529110.2:c.545_549del | ENSP00000435349.2:p.Pro182HisfsTer? | |
| ENST00000529957.6:n.519_523del | ||
| ENST00000683366.1:c.*193_*197del | ENSP00000507283.1:n.*193_*197del | |
| ENST00000683887.1:c.509_513del | ENSP00000506886.1:p.Pro170HisfsTer? | |
| ENST00000684100.1:n.455_459del | ||
| ENST00000684126.1:n.519_523del | ||
| ENST00000684688.1:n.1086_1090del | ||
| ENST00000204679.9:c.461_465del MANE Select | ENSP00000204679.4:p.Pro154HisfsTer? | |
| ENST00000204679.8:c.461_465del | ENSP00000204679.4:p.Pro154HisfsTer? | |
| ENST00000527076.1:n.1477_1481del | ||
| ENST00000527168.5:n.497_501del | ||
| ENST00000529110.1:c.528_532del | ||
| ENST00000529957.5:n.560_564del | ||
| NM_032520.4:c.461_465del | NP_115909.1:p.Pro154HisfsTer? | |
| XM_017023782.1:c.509_513del | XP_016879271.1:p.Pro170HisfsTer? | |
| XM_017023783.1:c.101_105del | XP_016879272.1:p.Pro34HisfsTer? | |
| NM_032520.5:c.461_465del MANE Select | NP_115909.1:p.Pro154HisfsTer? |