Linked Data
dbSNP Id:
rs1561759706
gnomAD v2:
5-127640630-AG-A
gnomAD v3:
5-128304938-AG-A
gnomAD v4:
5-128304938-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128304939del , CM000667.2:g.128304939del | GRCh38 |
| NC_000005.9:g.127640631del , CM000667.1:g.127640631del | GRCh37 |
| NC_000005.8:g.127668530del | NCBI36 |
| NG_008750.1:g.238105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2584+18del | ||
| ENST00000703785.1:n.2503+18del | ||
| ENST00000262464.9:c.5800+18del MANE Select | ENSP00000262464.4:n.5800+18del | |
| ENST00000262464.8:c.5800+18del | ENSP00000262464.4:n.5800+18del | |
| ENST00000508053.5:c.5800+18del | ENSP00000424571.1:n.5800+18del | |
| ENST00000619499.4:c.5797+18del | ENSP00000482132.1:n.5797+18del | |
| NM_001999.3:c.5800+18del | NP_001990.2:n.5800+18del | |
| XM_017009228.2:c.5647+18del | XP_016864717.1:n.5647+18del | |
| NM_001999.4:c.5800+18del MANE Select | NP_001990.2:n.5800+18del |