Linked Data
ClinVar Variation Id:
2889589
ClinVar RCV Id:
RCV003641910
dbSNP Id:
rs1238184768
gnomAD v3:
5-128300944-GA-G
gnomAD v4:
5-128300944-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300949del , CM000667.2:g.128300949del | GRCh38 |
| NC_000005.9:g.127636641del , CM000667.1:g.127636641del | GRCh37 |
| NC_000005.8:g.127664540del | NCBI36 |
| NG_008750.1:g.242099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2831-9del | ||
| ENST00000703785.1:n.2750-9del | ||
| ENST00000262464.9:c.6047-9del MANE Select | ENSP00000262464.4:n.6047-9del | |
| ENST00000262464.8:c.6047-9del | ENSP00000262464.4:n.6047-9del | |
| ENST00000508053.5:c.6047-9del | ENSP00000424571.1:n.6047-9del | |
| ENST00000619499.4:c.6044-9del | ENSP00000482132.1:n.6044-9del | |
| NM_001999.3:c.6047-9del | NP_001990.2:n.6047-9del | |
| XM_017009228.2:c.5894-9del | XP_016864717.1:n.5894-9del | |
| NM_001999.4:c.6047-9del MANE Select | NP_001990.2:n.6047-9del |