Linked Data
dbSNP Id:
rs1841439195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273570_80273572del , CM000672.2:g.80273570_80273572del | GRCh38 |
| NC_000010.10:g.82033326_82033328del , CM000672.1:g.82033326_82033328del | GRCh37 |
| NC_000010.9:g.82023306_82023308del | NCBI36 |
| NG_008083.1:g.21107_21109del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.*209_*211del MANE Select | ENSP00000361287.3:n.*209_*211del | |
| ENST00000372213.7:c.*209_*211del | ENSP00000361287.3:n.*209_*211del | |
| ENST00000480845.1:n.620+9_620+11del | ||
| ENST00000485270.5:n.909_911del | ||
| NM_000429.2:c.*209_*211del | NP_000420.1:n.*209_*211del | |
| XM_005269842.3:c.*209_*211del | XP_005269899.1:n.*209_*211del | |
| XM_005269843.3:c.*209_*211del | XP_005269900.1:n.*209_*211del | |
| NM_000429.3:c.*209_*211del MANE Select | NP_000420.1:n.*209_*211del |