Linked Data
dbSNP Id:
rs201973599
ExAC:
3:30885653 GC / G
gnomAD v2:
3-30885653-GC-G
gnomAD v3:
3-30844161-GC-G
gnomAD v4:
3-30844161-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30844162del , CM000665.2:g.30844162del | GRCh38 |
| NC_000003.11:g.30885654del , CM000665.1:g.30885654del | GRCh37 |
| NC_000003.10:g.30860658del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282538.10:c.786+48del MANE Select | ENSP00000282538.5:n.786+48del | |
| ENST00000282538.9:c.786+48del | ENSP00000282538.5:n.786+48del | |
| ENST00000454381.3:c.786+48del | ENSP00000427059.1:n.786+48del | |
| NM_207359.2:c.786+48del | NP_997242.2:n.786+48del | |
| XM_017006297.1:c.729+48del | XP_016861786.1:n.729+48del | |
| XM_017006298.1:c.48+48del | XP_016861787.1:n.48+48del | |
| NM_207359.3:c.786+48del MANE Select | NP_997242.2:n.786+48del |