Linked Data
ClinVar Variation Id:
1707385
ClinVar RCV Id:
RCV002286301
dbSNP Id:
rs757703536
gnomAD v2:
5-147486958-GT-G
gnomAD v3:
5-148107395-GT-G
gnomAD v4:
5-148107395-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148107404del , CM000667.2:g.148107404del | GRCh38 |
| NC_000005.9:g.147486967del , CM000667.1:g.147486967del | GRCh37 |
| NC_000005.8:g.147467160del | NCBI36 |
| NG_009633.1:g.48433del , LRG_110:g.48433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.1216+240del | ||
| ENST00000256084.8:c.1607+240del MANE Select | ENSP00000256084.7:n.1607+240del | |
| ENST00000256084.7:c.1607+240del | ENSP00000256084.7:n.1607+240del | |
| ENST00000359874.7:c.1607+240del | ENSP00000352936.3:n.1607+240del | |
| ENST00000398454.5:c.1607+240del | ENSP00000381472.1:n.1607+240del | |
| ENST00000507988.5:n.1771+240del | ||
| ENST00000508733.5:c.1550+240del | ENSP00000421519.1:n.1550+240del | |
| NM_001127698.1:c.1607+240del | NP_001121170.1:n.1607+240del | |
| NM_001127699.1:c.1607+240del | NP_001121171.1:n.1607+240del | |
| NM_006846.3:c.1607+240del , LRG_110t1:c.1607+240del | NP_006837.2:n.1607+240del | |
| XM_011537550.1:c.1550+240del | XP_011535852.1:n.1550+240del | |
| XM_011537551.1:c.1523+240del | XP_011535853.1:n.1523+240del | |
| XM_011537551.2:c.1523+240del | XP_011535853.1:n.1523+240del | |
| NM_001127698.2:c.1607+240del | NP_001121170.1:n.1607+240del | |
| NM_001127699.2:c.1607+240del | NP_001121171.1:n.1607+240del | |
| NM_006846.4:c.1607+240del MANE Select | NP_006837.2:n.1607+240del |