Linked Data
ClinVar Variation Id:
553280
ClinVar RCV Id:
RCV000668691
dbSNP Id:
rs1553232077
MyVariant Identifiers:
chr1:g.2408451del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408451del , CM000663.2:g.2408451del | GRCh38 |
| NC_000001.10:g.2339890del , CM000663.1:g.2339890del | GRCh37 |
| NC_000001.9:g.2329750del | NCBI36 |
| NG_008342.1:g.9121del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.600+1del | ENSP00000288774.3:n.600+1del | |
| ENST00000447513.7:c.600+1del MANE Select | ENSP00000407922.2:n.600+1del | |
| ENST00000650293.1:c.554+1del | ||
| ENST00000288774.7:c.600+1del | ENSP00000288774.3:n.600+1del | |
| ENST00000447513.6:c.600+1del | ENSP00000407922.2:n.600+1del | |
| ENST00000507596.5:c.600+1del | ENSP00000424291.1:n.600+1del | |
| ENST00000510434.1:c.596+5del | ENSP00000423051.1:n.596+5del | |
| NM_002617.3:c.600+1del | NP_002608.1:n.600+1del | |
| NM_153818.1:c.600+1del | NP_722540.1:n.600+1del | |
| XM_011541573.1:c.600+1del | XP_011539875.1:n.600+1del | |
| XM_011541574.1:c.168+1del | XP_011539876.1:n.168+1del | |
| XM_011541575.1:c.168+1del | XP_011539877.1:n.168+1del | |
| XM_011541576.1:c.596+5del | XP_011539878.1:n.596+5del | |
| XR_946666.1:n.716+5del | ||
| XM_011541576.2:c.596+5del | XP_011539878.1:n.596+5del | |
| XR_946666.2:n.665+5del | ||
| NM_001374425.1:c.600+1del | NP_001361354.1:n.600+1del | |
| NM_001374426.1:c.168+1del | NP_001361355.1:n.168+1del | |
| NM_001374427.1:c.168+1del | NP_001361356.1:n.168+1del | |
| NM_002617.4:c.600+1del MANE Select | NP_002608.1:n.600+1del | |
| NM_153818.2:c.600+1del | NP_722540.1:n.600+1del | |
| NR_164636.1:n.715+5del |