Linked Data
dbSNP Id:
rs1228093043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414266_119414268del , CM000665.2:g.119414266_119414268del | GRCh38 |
| NC_000003.11:g.119133113_119133115del , CM000665.1:g.119133113_119133115del | GRCh37 |
| NC_000003.10:g.120615803_120615805del | NCBI36 |
| NG_007665.2:g.124894_124896del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2337_2339del MANE Select | ENSP00000264245.4:p.Pro780del | |
| ENST00000264245.8:c.2337_2339del | ENSP00000264245.4:p.Pro780del | |
| NM_020754.3:c.2337_2339del | NP_065805.2:p.Pro780del | |
| XM_005247671.3:c.2244_2246del | XP_005247728.1:p.Pro749del | |
| XM_006713714.2:c.2277_2279del | XP_006713777.1:p.Pro760del | |
| XM_006713714.3:c.2277_2279del | XP_006713777.1:p.Pro760del | |
| XM_017006955.1:c.1845_1847del | XP_016862444.1:p.Pro616del | |
| NM_020754.4:c.2337_2339del MANE Select | NP_065805.2:p.Pro780del |