Linked Data
ClinVar Variation Id:
30680
ClinVar RCV Id:
RCV000023657
dbSNP Id:
rs587777836
ExAC:
4:122754464 TCTGGAA / T
gnomAD v2:
4-122754464-TCTGGAA-T
gnomAD v3:
4-121833309-TCTGGAA-T
gnomAD v4:
4-121833309-TCTGGAA-T
PubMed:
PMID:21937992
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121833312_121833317del , CM000666.2:g.121833312_121833317del | GRCh38 |
| NC_000004.11:g.122754467_122754472del , CM000666.1:g.122754467_122754472del | GRCh37 |
| NC_000004.10:g.122973917_122973922del | NCBI36 |
| NG_009111.1:g.42173_42178del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264499.9:c.1592_1597del MANE Select | ENSP00000264499.4:p.Val531_Pro532del | |
| ENST00000264499.8:c.1592_1597del | ENSP00000264499.4:p.Val531_Pro532del | |
| ENST00000506636.1:c.1592_1597del | ENSP00000423626.1:p.Val531_Pro532del | |
| NM_018190.3:c.1592_1597del | NP_060660.2:p.Val531_Pro532del | |
| NM_176824.2:c.1592_1597del | NP_789794.1:p.Val531_Pro532del | |
| XM_005263106.2:c.1595_1600del | XP_005263163.1:p.Val532_Pro533del | |
| XM_011532079.1:c.1640_1645del | XP_011530381.1:p.Val547_Pro548del | |
| XM_011532080.1:c.1637_1642del | XP_011530382.1:p.Val546_Pro547del | |
| XM_011532081.1:c.1559+1829_1559+1834del | XP_011530383.1:n.1559+1829_1559+1834del | |
| XM_005263106.4:c.1595_1600del | XP_005263163.1:p.Val532_Pro533del | |
| XM_011532079.3:c.1640_1645del | XP_011530381.1:p.Val547_Pro548del | |
| XM_011532080.3:c.1637_1642del | XP_011530382.1:p.Val546_Pro547del | |
| XM_011532081.3:c.1559+1829_1559+1834del | XP_011530383.1:n.1559+1829_1559+1834del | |
| XM_017008357.2:c.1511+1829_1511+1834del | XP_016863846.1:n.1511+1829_1511+1834del | |
| XM_017008358.2:c.1514+1829_1514+1834del | XP_016863847.1:n.1514+1829_1514+1834del | |
| NM_176824.3:c.1592_1597del MANE Select | NP_789794.1:p.Val531_Pro532del | |
| NM_018190.4:c.1592_1597del | NP_060660.2:p.Val531_Pro532del |