Linked Data
dbSNP Id:
rs2040122221
gnomAD v3:
16-1510966-TCCA-T
gnomAD v4:
16-1510966-TCCA-T
MyVariant Identifiers:
chr16:g.1560968_1560970del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510972_1510974del , CM000678.2:g.1510972_1510974del | GRCh38 |
| NC_000016.9:g.1560973_1560975del , CM000678.1:g.1560973_1560975del | GRCh37 |
| NC_000016.8:g.1500974_1500976del | NCBI36 |
| NG_032783.1:g.106140_106142del | |
| NG_050910.1:g.22629_22631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4364_4366del MANE Select | ENSP00000406012.2:p.Val1455del | |
| ENST00000361339.9:c.1946_1948del | ENSP00000354895.5:p.Val649del | |
| ENST00000397417.6:c.*2802_*2804del | ENSP00000380562.2:n.*2802_*2804del | |
| ENST00000426508.6:c.4364_4366del | ENSP00000406012.2:p.Val1455del | |
| ENST00000565298.5:n.4188_4190del | ||
| NM_014714.3:c.4364_4366del | NP_055529.2:p.Val1455del | |
| XM_006720989.2:c.4364_4366del | XP_006721052.1:p.Val1455del | |
| XM_006720990.2:c.4364_4366del | XP_006721053.1:p.Val1455del | |
| XM_006720991.2:c.4364_4366del | XP_006721054.1:p.Val1455del | |
| XM_006720992.2:c.1997_1999del | XP_006721055.1:p.Val666del | |
| XM_011522766.1:c.4118_4120del | XP_011521068.1:p.Val1373del | |
| XM_011522767.1:c.3389_3391del | XP_011521069.1:p.Val1130del | |
| XM_006720990.3:c.4364_4366del | XP_006721053.1:p.Val1455del | |
| XM_006720991.3:c.4364_4366del | XP_006721054.1:p.Val1455del | |
| XM_006720992.3:c.1997_1999del | XP_006721055.1:p.Val666del | |
| XM_011522766.3:c.4118_4120del | XP_011521068.1:p.Val1373del | |
| XM_011522767.2:c.3389_3391del | XP_011521069.1:p.Val1130del | |
| XM_017023910.1:c.4364_4366del | XP_016879399.1:p.Val1455del | |
| XM_017023911.1:c.2549_2551del | XP_016879400.1:p.Val850del | |
| NM_014714.4:c.4364_4366del MANE Select | NP_055529.2:p.Val1455del |