Linked Data
ClinVar Variation Id:
551927
dbSNP Id:
rs1555423046
gnomAD v4:
15-42409944-GAC-G
MyVariant Identifiers:
chr15:g.42409949_42409950del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42409949_42409950del , CM000677.2:g.42409949_42409950del | GRCh38 |
| NC_000015.9:g.42702147_42702148del , CM000677.1:g.42702147_42702148del | GRCh37 |
| NC_000015.8:g.40489439_40489440del | NCBI36 |
| NG_008660.1:g.66847_66848del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.74_75del | ENSP00000336840.4:p.His25ArgfsTer9 | |
| ENST00000349748.8:c.1793_1794del | ENSP00000183936.4:p.His598ArgfsTer9 | |
| ENST00000357568.8:c.2051_2052del | ENSP00000350181.3:p.His684ArgfsTer9 | |
| ENST00000397163.8:c.2069_2070del MANE Select | ENSP00000380349.3:p.His690ArgfsTer9 | |
| ENST00000397204.9:c.74_75del | ENSP00000380387.4:p.His25ArgfsTer9 | |
| ENST00000466222.7:n.334_335del | ||
| ENST00000466369.5:n.2560_2561del | ||
| ENST00000495723.1:n.2940_2941del | ||
| ENST00000549793.5:n.2282_2283del | ||
| ENST00000562199.2:c.77_78del | ENSP00000501034.1:p.His26ArgfsTer9 | |
| ENST00000569136.6:c.74_75del | ENSP00000455254.1:p.His25ArgfsTer9 | |
| ENST00000638141.2:n.1808_1809del | ||
| ENST00000673646.1:c.633_634del | ENSP00000501007.1:n.633_634del | |
| ENST00000673687.1:n.146_147del | ||
| ENST00000673692.1:c.74_75del | ENSP00000501138.1:p.His25ArgfsTer9 | |
| ENST00000673705.1:c.464_465del | ENSP00000501021.1:n.464_465del | |
| ENST00000673743.1:c.-29_-28del | ENSP00000500989.1:n.-29_-28del | |
| ENST00000673750.1:c.74_75del | ENSP00000501173.1:p.His25ArgfsTer9 | |
| ENST00000673771.1:c.74_75del | ENSP00000501023.1:p.His25ArgfsTer9 | |
| ENST00000673774.1:n.770_771del | ||
| ENST00000673839.1:c.74_75del | ENSP00000501188.1:p.His25ArgfsTer9 | |
| ENST00000673851.1:c.74_75del | ENSP00000501142.1:p.His25ArgfsTer9 | |
| ENST00000673854.1:n.5491_5492del | ||
| ENST00000673886.1:c.74_75del | ENSP00000501155.1:p.His25ArgfsTer9 | |
| ENST00000673890.1:c.74_75del | ENSP00000501293.1:p.His25ArgfsTer9 | |
| ENST00000673928.1:c.74_75del | ENSP00000501099.1:p.His25ArgfsTer9 | |
| ENST00000673936.1:c.74_75del | ENSP00000501189.1:p.His25ArgfsTer9 | |
| ENST00000673939.1:c.74_75del | ENSP00000501129.1:p.His25ArgfsTer9 | |
| ENST00000673950.1:n.343_344del | ||
| ENST00000673978.1:c.212_213del | ENSP00000500976.1:p.His71ArgfsTer9 | |
| ENST00000673987.1:c.74_75del | ENSP00000501231.1:p.His25ArgfsTer9 | |
| ENST00000674011.1:c.74_75del | ENSP00000501171.1:p.His25ArgfsTer9 | |
| ENST00000674018.1:c.74_75del | ENSP00000501271.1:p.His25ArgfsTer9 | |
| ENST00000674027.1:n.129_130del | ||
| ENST00000674041.1:c.74_75del | ENSP00000500956.1:p.His25ArgfsTer9 | |
| ENST00000674052.1:c.293_294del | ENSP00000501057.1:p.His98ArgfsTer9 | |
| ENST00000674093.1:c.74_75del | ENSP00000501303.1:p.His25ArgfsTer9 | |
| ENST00000674119.1:c.74_75del | ENSP00000501217.1:p.His25ArgfsTer9 | |
| ENST00000674130.1:n.287_288del | ||
| ENST00000674135.1:c.251_252del | ENSP00000501178.1:p.His84ArgfsTer9 | |
| ENST00000674139.1:c.74_75del | ENSP00000501054.1:p.His25ArgfsTer9 | |
| ENST00000674146.1:c.74_75del | ENSP00000501175.1:p.His25ArgfsTer9 | |
| ENST00000674149.1:c.74_75del | ENSP00000501112.1:p.His25ArgfsTer9 | |
| ENST00000318023.11:c.1925_1926del | ENSP00000326281.8:p.His642ArgfsTer9 | |
| ENST00000337571.8:c.74_75del | ENSP00000336840.4:p.His25ArgfsTer9 | |
| ENST00000349748.7:c.1793_1794del | ENSP00000183936.4:p.His598ArgfsTer9 | |
| ENST00000356316.7:c.74_75del | ENSP00000348667.4:p.His25ArgfsTer9 | |
| ENST00000357568.7:c.2051_2052del | ENSP00000350181.3:p.His684ArgfsTer9 | |
| ENST00000397163.7:c.2069_2070del | ENSP00000380349.3:p.His690ArgfsTer9 | |
| ENST00000397200.8:c.533_534del | ENSP00000380384.4:p.His178ArgfsTer9 | |
| ENST00000397204.8:c.74_75del | ENSP00000380387.4:p.His25ArgfsTer9 | |
| ENST00000466222.6:n.992_993del | ||
| ENST00000561817.5:c.74_75del | ENSP00000456575.1:p.His25ArgfsTer9 | |
| ENST00000562199.1:n.77_78del | ||
| ENST00000564503.5:c.166_167del | ||
| ENST00000565274.5:c.281_282del | ENSP00000457759.1:p.His94ArgfsTer9 | |
| ENST00000565559.5:c.251_252del | ENSP00000457878.1:p.His84ArgfsTer9 | |
| ENST00000567071.5:c.549_550del | ||
| ENST00000569136.5:c.74_75del | ENSP00000455254.1:p.His25ArgfsTer9 | |
| ENST00000569827.5:c.401_402del | ENSP00000454379.1:p.His134ArgfsTer9 | |
| NM_000070.2:c.2069_2070del | NP_000061.1:p.His690ArgfsTer9 | |
| NM_024344.1:c.2051_2052del | NP_077320.1:p.His684ArgfsTer9 | |
| NM_173087.1:c.1793_1794del | NP_775110.1:p.His598ArgfsTer9 | |
| NM_173088.1:c.533_534del | NP_775111.1:p.His178ArgfsTer9 | |
| NM_173089.1:c.74_75del | NP_775112.1:p.His25ArgfsTer9 | |
| NM_173090.1:c.74_75del | NP_775113.1:p.His25ArgfsTer9 | |
| NM_000070.3:c.2069_2070del MANE Select | NP_000061.1:p.His690ArgfsTer9 | |
| NM_024344.2:c.2051_2052del | NP_077320.1:p.His684ArgfsTer9 | |
| NM_173087.2:c.1793_1794del | NP_775110.1:p.His598ArgfsTer9 | |
| NM_173088.2:c.533_534del | NP_775111.1:p.His178ArgfsTer9 | |
| NM_173089.2:c.74_75del | NP_775112.1:p.His25ArgfsTer9 | |
| NM_173090.2:c.74_75del | NP_775113.1:p.His25ArgfsTer9 |