Linked Data
dbSNP Id:
rs767835848
ExAC:
16:1560950 GGTC / G
gnomAD v2:
16-1560950-GGTC-G
gnomAD v3:
16-1510949-GGTC-G
gnomAD v4:
16-1510949-GGTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510953_1510955del , CM000678.2:g.1510953_1510955del | GRCh38 |
| NC_000016.9:g.1560954_1560956del , CM000678.1:g.1560954_1560956del | GRCh37 |
| NC_000016.8:g.1500955_1500957del | NCBI36 |
| NG_032783.1:g.106157_106159del | |
| NG_050910.1:g.22610_22612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4381_4383del MANE Select | ENSP00000406012.2:p.Asp1461del | |
| ENST00000361339.9:c.1963_1965del | ENSP00000354895.5:p.Asp655del | |
| ENST00000397417.6:c.*2819_*2821del | ENSP00000380562.2:n.*2819_*2821del | |
| ENST00000426508.6:c.4381_4383del | ENSP00000406012.2:p.Asp1461del | |
| ENST00000565298.5:n.4205_4207del | ||
| NM_014714.3:c.4381_4383del | NP_055529.2:p.Asp1461del | |
| XM_006720989.2:c.4381_4383del | XP_006721052.1:p.Asp1461del | |
| XM_006720990.2:c.4381_4383del | XP_006721053.1:p.Asp1461del | |
| XM_006720991.2:c.4381_4383del | XP_006721054.1:p.Asp1461del | |
| XM_006720992.2:c.2014_2016del | XP_006721055.1:p.Asp672del | |
| XM_011522766.1:c.4135_4137del | XP_011521068.1:p.Asp1379del | |
| XM_011522767.1:c.3406_3408del | XP_011521069.1:p.Asp1136del | |
| XM_006720990.3:c.4381_4383del | XP_006721053.1:p.Asp1461del | |
| XM_006720991.3:c.4381_4383del | XP_006721054.1:p.Asp1461del | |
| XM_006720992.3:c.2014_2016del | XP_006721055.1:p.Asp672del | |
| XM_011522766.3:c.4135_4137del | XP_011521068.1:p.Asp1379del | |
| XM_011522767.2:c.3406_3408del | XP_011521069.1:p.Asp1136del | |
| XM_017023910.1:c.4381_4383del | XP_016879399.1:p.Asp1461del | |
| XM_017023911.1:c.2566_2568del | XP_016879400.1:p.Asp856del | |
| NM_014714.4:c.4381_4383del MANE Select | NP_055529.2:p.Asp1461del |