Linked Data
dbSNP Id:
rs1762760972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32443699_32443700del , CM000668.2:g.32443699_32443700del | GRCh38 |
| NC_000006.11:g.32411476_32411477del , CM000668.1:g.32411476_32411477del | GRCh37 |
| NC_000006.10:g.32519454_32519455del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395388.7:c.611-57_611-56del MANE Select | ENSP00000378786.2:n.611-57_611-56del | |
| ENST00000374982.5:c.536-57_536-56del | ENSP00000364121.5:n.536-57_536-56del | |
| ENST00000395388.6:c.611-57_611-56del | ENSP00000378786.2:n.611-57_611-56del | |
| NM_019111.4:c.611-57_611-56del | NP_061984.2:n.611-57_611-56del | |
| NM_019111.5:c.611-57_611-56del MANE Select | NP_061984.2:n.611-57_611-56del |