Linked Data
dbSNP Id:
rs1035563401
gnomAD v2:
15-101813809-TA-T
gnomAD v3:
15-101273604-TA-T
gnomAD v4:
15-101273604-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101273606del , CM000677.2:g.101273606del | GRCh38 |
| NC_000015.9:g.101813811del , CM000677.1:g.101813811del | GRCh37 |
| NC_000015.8:g.99631334del | NCBI36 |
| NG_013322.1:g.8891del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526049.6:c.485-749del MANE Select | ENSP00000433541.1:n.485-749del | |
| ENST00000398226.7:c.485-749del | ENSP00000381282.3:n.485-749del | |
| ENST00000526043.1:n.1778-749del | ||
| ENST00000526049.5:c.485-749del | ENSP00000433541.1:n.485-749del | |
| ENST00000528346.1:c.605-749del | ENSP00000434842.1:n.605-749del | |
| ENST00000531964.5:c.416-749del | ENSP00000433803.1:n.416-749del | |
| NM_018445.5:c.485-749del | NP_060915.2:n.485-749del | |
| NM_203472.2:c.485-749del | NP_982298.2:n.485-749del | |
| NM_018445.6:c.485-749del MANE Select | NP_060915.2:n.485-749del | |
| NM_203472.3:c.485-749del | NP_982298.2:n.485-749del |