Linked Data
ClinVar Variation Id:
3559
ClinVar RCV Id:
RCV000003740
dbSNP Id:
rs387906296
gnomAD v2:
16-48201497-TTCACGGATTGTGCGCTGGATCAGGGTG-T
gnomAD v3:
16-48167586-TTCACGGATTGTGCGCTGGATCAGGGTG-T
gnomAD v4:
16-48167586-TTCACGGATTGTGCGCTGGATCAGGGTG-T
PubMed:
PMID:16444273
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48167589_48167615del , CM000678.2:g.48167589_48167615del | GRCh38 |
| NC_000016.9:g.48201500_48201526del , CM000678.1:g.48201500_48201526del | GRCh37 |
| NC_000016.8:g.46759001_46759027del | NCBI36 |
| NG_011522.1:g.72565_72591del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356608.7:c.3939_3965del MANE Select | ENSP00000349017.2:p.Asp1313_Arg1321del | |
| ENST00000353782.9:c.3825_3851del | ENSP00000311326.6:p.Asp1275_Arg1283del | |
| ENST00000356608.6:c.3939_3965del | ENSP00000349017.2:p.Asp1313_Arg1321del | |
| ENST00000394747.5:c.3939_3965del | ENSP00000378230.1:p.Asp1313_Arg1321del | |
| ENST00000394748.5:c.3939_3965del | ENSP00000378231.1:p.Asp1313_Arg1321del | |
| ENST00000565329.1:n.1239_1265del | ||
| NM_032583.3:c.3939_3965del | NP_115972.2:p.Asp1313_Arg1321del | |
| NM_033151.3:c.3939_3965del | NP_149163.2:p.Asp1313_Arg1321del | |
| NM_145186.2:c.3825_3851del | NP_660187.1:p.Asp1275_Arg1283del | |
| XM_011523396.1:c.3741_3767del | XP_011521698.1:p.Asp1247_Arg1255del | |
| XM_011523397.1:c.2982_3008del | XP_011521699.1:p.Asp994_Arg1002del | |
| XM_011523398.1:c.2070_2096del | XP_011521700.1:p.Asp690_Arg698del | |
| XM_011523397.2:c.2982_3008del | XP_011521699.1:p.Asp994_Arg1002del | |
| XM_011523398.3:c.2070_2096del | XP_011521700.1:p.Asp690_Arg698del | |
| XM_017023795.2:c.3939_3965del | XP_016879284.1:p.Asp1313_Arg1321del | |
| XM_017023796.2:c.3939_3965del | XP_016879285.1:p.Asp1313_Arg1321del | |
| XM_017023797.2:c.3939_3965del | XP_016879286.1:p.Asp1313_Arg1321del | |
| XM_017023798.2:c.3939_3965del | XP_016879287.1:p.Asp1313_Arg1321del | |
| XM_017023799.2:c.3939_3965del | XP_016879288.1:p.Asp1313_Arg1321del | |
| XM_017023800.2:c.3939_3965del | XP_016879289.1:p.Asp1313_Arg1321del | |
| XM_017023801.2:c.3831_3857del | XP_016879290.1:p.Asp1277_Arg1285del | |
| XM_017023802.2:c.2982_3008del | XP_016879291.1:p.Asp994_Arg1002del | |
| XM_024450475.1:c.2982_3008del | XP_024306243.1:p.Asp994_Arg1002del | |
| XR_001752012.1:n.6617_6643del | ||
| NM_001370496.1:c.3945_3971del | NP_001357425.1:p.Asp1315_Arg1323del | |
| NM_001370497.1:c.3939_3965del MANE Select | NP_001357426.1:p.Asp1313_Arg1321del | |
| NM_032583.4:c.3939_3965del | NP_115972.2:p.Asp1313_Arg1321del | |
| NM_033151.4:c.3939_3965del | NP_149163.2:p.Asp1313_Arg1321del | |
| NM_145186.3:c.3825_3851del | NP_660187.1:p.Asp1275_Arg1283del |