Linked Data
ClinVar Variation Id:
425127
dbSNP Id:
rs1064797219
gnomAD v4:
17-29252116-AGAG-A
COSMIC:
COSM1381821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29252120_29252122del , CM000679.2:g.29252120_29252122del | GRCh38 |
| NC_000017.10:g.27579138_27579140del , CM000679.1:g.27579138_27579140del | GRCh37 |
| NC_000017.9:g.24603264_24603266del | NCBI36 |
| NG_008037.1:g.10264_10266del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225387.8:c.272_274del MANE Select | ENSP00000225387.3:p.Gly91del | |
| ENST00000225387.7:c.272_274del | ENSP00000225387.3:p.Gly91del | |
| ENST00000484605.1:c.206-1520_206-1518del | ||
| NM_005208.4:c.272_274del | NP_005199.2:p.Gly91del | |
| XM_017024198.1:c.575_577del | XP_016879687.1:p.Gly192del | |
| NM_005208.5:c.272_274del MANE Select | NP_005199.2:p.Gly91del |