Linked Data
dbSNP Id:
rs1564645621
gnomAD v2:
10-82034849-CGGTCTACCTTGGT-C
gnomAD v4:
10-80275093-CGGTCTACCTTGGT-C
MyVariant Identifiers:
chr10:g.82034850_82034862del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275095_80275107del , CM000672.2:g.80275095_80275107del | GRCh38 |
| NC_000010.10:g.82034851_82034863del , CM000672.1:g.82034851_82034863del | GRCh37 |
| NC_000010.9:g.82024831_82024843del | NCBI36 |
| NG_008083.1:g.19573_19585del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.862_874del MANE Select | ENSP00000361287.3:p.Thr288AlafsTer15 | |
| ENST00000372213.7:c.862_874del | ENSP00000361287.3:p.Thr288AlafsTer15 | |
| ENST00000480845.1:n.94_106del | ||
| ENST00000485270.5:n.374_386del | ||
| NM_000429.2:c.862_874del | NP_000420.1:p.Thr288AlafsTer15 | |
| XM_005269842.3:c.862_874del | XP_005269899.1:p.Thr288AlafsTer15 | |
| XM_005269843.3:c.739_751del | XP_005269900.1:p.Thr247AlafsTer15 | |
| NM_000429.3:c.862_874del MANE Select | NP_000420.1:p.Thr288AlafsTer15 |