Linked Data
ClinVar Variation Id:
2869466
ClinVar RCV Id:
RCV003705583
dbSNP Id:
rs768382989
gnomAD v2:
X-107840609-CATTCCAGGA-C
gnomAD v4:
X-108597379-CATTCCAGGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108597380_108597388del , CM000685.2:g.108597380_108597388del | GRCh38 |
| NC_000023.10:g.107840610_107840618del , CM000685.1:g.107840610_107840618del | GRCh37 |
| NC_000023.9:g.107727266_107727274del | NCBI36 |
| NG_011977.1:g.162457_162465del | |
| NG_011977.2:g.162457_162465del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.1591_1599del MANE Select | ENSP00000331902.7:p.Ile531_Gly533del | |
| ENST00000361603.7:c.1591_1599del | ENSP00000354505.2:p.Ile531_Gly533del | |
| ENST00000328300.10:c.1591_1599del | ENSP00000331902.6:p.Ile531_Gly533del | |
| ENST00000361603.6:c.1591_1599del | ENSP00000354505.2:p.Ile531_Gly533del | |
| ENST00000483338.1:n.1047_1055del | ||
| NM_000495.4:c.1591_1599del | NP_000486.1:p.Ile531_Gly533del | |
| NM_033380.2:c.1591_1599del | NP_203699.1:p.Ile531_Gly533del | |
| XM_005262070.2:c.1591_1599del | XP_005262127.1:p.Ile531_Gly533del | |
| XM_005262072.3:c.1591_1599del | XP_005262129.1:p.Ile531_Gly533del | |
| XM_006724616.2:c.1591_1599del | XP_006724679.1:p.Ile531_Gly533del | |
| XM_011530849.1:c.1267_1275del | XP_011529151.1:p.Ile423_Gly425del | |
| XM_011530850.1:c.1591_1599del | XP_011529152.1:p.Ile531_Gly533del | |
| XM_011530849.2:c.1606_1614del | XP_011529151.2:p.Ile536_Gly538del | |
| XM_017029259.2:c.1606_1614del | XP_016884748.1:p.Ile536_Gly538del | |
| XM_017029260.1:c.1606_1614del | XP_016884749.1:p.Ile536_Gly538del | |
| XM_017029261.1:c.1606_1614del | XP_016884750.1:p.Ile536_Gly538del | |
| XM_017029262.2:c.1606_1614del | XP_016884751.1:p.Ile536_Gly538del | |
| XM_017029263.2:c.-75_-67del | XP_016884752.1:n.-75_-67del | |
| NM_000495.5:c.1591_1599del | NP_000486.1:p.Ile531_Gly533del | |
| NM_033380.3:c.1591_1599del MANE Select | NP_203699.1:p.Ile531_Gly533del |