Linked Data
ClinVar Variation Id:
371558
ClinVar RCV Id:
RCV002523880
dbSNP Id:
rs1057517366
gnomAD v4:
13-23337654-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337655del , CM000675.2:g.23337655del | GRCh38 |
| NC_000013.10:g.23911794del , CM000675.1:g.23911794del | GRCh37 |
| NC_000013.9:g.22809794del | NCBI36 |
| NG_012342.1:g.101048del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+16130del | ENSP00000508399.1:n.2185+16130del | |
| ENST00000682944.1:c.6248del | ENSP00000507173.1:p.Asp2083ValfsTer3 | |
| ENST00000683210.1:c.2185+16130del | ENSP00000506739.1:n.2185+16130del | |
| ENST00000683270.1:c.6212del | ENSP00000507624.1:p.Asp2071ValfsTer3 | |
| ENST00000683367.1:c.2177-8171del | ENSP00000507780.1:n.2177-8171del | |
| ENST00000683489.1:c.2291+3930del | ENSP00000508403.1:n.2291+3930del | |
| ENST00000683680.1:c.2318+3930del | ENSP00000507223.1:n.2318+3930del | |
| ENST00000684163.1:c.2204-8171del | ENSP00000508262.1:n.2204-8171del | |
| ENST00000684196.1:n.4543-8171del | ||
| ENST00000684325.1:c.2186-15981del | ENSP00000508121.1:n.2186-15981del | |
| ENST00000684385.1:c.2221-8171del | ENSP00000507855.1:n.2221-8171del | |
| ENST00000684497.1:c.2186-15011del | ENSP00000507057.1:n.2186-15011del | |
| ENST00000382292.9:c.6221del MANE Select | ENSP00000371729.3:p.Asp2074ValfsTer3 | |
| ENST00000423156.2:c.2186-8171del | ENSP00000390925.2:n.2186-8171del | |
| ENST00000455470.6:c.2431+3790del | ENSP00000406565.2:n.2431+3790del | |
| ENST00000382292.7:c.6221del | ENSP00000371729.3:p.Asp2074ValfsTer3 | |
| ENST00000382298.7:c.6221del | ENSP00000371735.3:p.Asp2074ValfsTer3 | |
| ENST00000402364.1:c.3971del | ENSP00000385844.1:p.Asp1324ValfsTer3 | |
| ENST00000423156.1:c.1058-8171del | ENSP00000390925.1:n.1058-8171del | |
| ENST00000455470.5:c.2129+3790del | ||
| NM_001278055.1:c.5780del | NP_001264984.1:p.Asp1927ValfsTer3 | |
| NM_014363.5:c.6221del | NP_055178.3:p.Asp2074ValfsTer3 | |
| XM_005266338.1:c.6248del | XP_005266395.1:p.Asp2083ValfsTer3 | |
| XM_011535038.1:c.6272del | XP_011533340.1:p.Asp2091ValfsTer3 | |
| XM_011535039.1:c.6239del | XP_011533341.1:p.Asp2080ValfsTer3 | |
| XM_005266338.2:c.6248del | XP_005266395.1:p.Asp2083ValfsTer3 | |
| XM_011535039.2:c.6239del | XP_011533341.1:p.Asp2080ValfsTer3 | |
| XM_017020539.1:c.6212del | XP_016876028.1:p.Asp2071ValfsTer3 | |
| XM_024449337.1:c.6248del | XP_024305105.1:p.Asp2083ValfsTer3 | |
| NM_014363.6:c.6221del MANE Select | NP_055178.3:p.Asp2074ValfsTer3 | |
| NM_001278055.2:c.5780del | NP_001264984.1:p.Asp1927ValfsTer3 |