Linked Data
ClinVar Variation Id:
375384
ClinVar RCV Id:
RCV000416436
dbSNP Id:
rs1057519444
MyVariant Identifiers:
chr22:g.32914195_32914196delinsAA (hg19)
chr22:g.32518208_32518209delinsAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32518208_32518209delinsAA , CM000684.2:g.32518208_32518209delinsAA | GRCh38 |
| NC_000022.10:g.32914195_32914196delinsAA , CM000684.1:g.32914195_32914196delinsAA | GRCh37 |
| NC_000022.9:g.31244195_31244196delinsAA | NCBI36 |
| NG_029545.1:g.545182_545183delinsTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358763.7:c.1444_1445delinsTT MANE Select | ENSP00000351614.2:p.Pro482Leu | |
| ENST00000332840.9:c.673_674delinsTT | ENSP00000330219.6:p.Pro225Leu | |
| ENST00000358763.6:c.1444_1445delinsTT | ENSP00000351614.2:p.Pro482Leu | |
| ENST00000459990.5:n.417_418delinsTT | ||
| ENST00000461446.1:n.335_336delinsTT | ||
| ENST00000467095.5:n.426_427delinsTT | ||
| ENST00000468922.1:n.491_492delinsTT | ||
| ENST00000483062.5:n.412_413delinsTT | ||
| NM_001135774.1:c.1441_1442delinsTT | NP_001129246.1:p.Pro481Leu | |
| NM_003490.3:c.1444_1445delinsTT | NP_003481.3:p.Pro482Leu | |
| NM_133633.2:c.1319-4385_1319-4384delinsTT | NP_598344.2:n.1319-4385_1319-4384delinsTT... | |
| XM_011530405.1:c.1444_1445delinsTT | XP_011528707.1:p.Pro482Leu | |
| XM_011530406.1:c.1444_1445delinsTT | XP_011528708.1:p.Pro482Leu | |
| XM_011530407.1:c.1444_1445delinsTT | XP_011528709.1:p.Pro482Leu | |
| XM_011530408.1:c.1444_1445delinsTT | XP_011528710.1:p.Pro482Leu | |
| XM_011530409.1:c.1444_1445delinsTT | XP_011528711.1:p.Pro482Leu | |
| XM_011530410.1:c.1090_1091delinsTT | XP_011528712.1:p.Pro364Leu | |
| XM_011530411.1:c.*36_*37delinsTT | XP_011528713.1:n.*36_*37delinsTT | |
| XM_011530412.1:c.679_680delinsTT | XP_011528714.1:p.Pro227Leu | |
| XR_937927.1:n.1928_1929delinsTT | ||
| XM_011530405.3:c.1444_1445delinsTT | XP_011528707.1:p.Pro482Leu | |
| XM_011530406.3:c.1444_1445delinsTT | XP_011528708.1:p.Pro482Leu | |
| XM_011530407.3:c.1444_1445delinsTT | XP_011528709.1:p.Pro482Leu | |
| XM_011530408.2:c.1444_1445delinsTT | XP_011528710.1:p.Pro482Leu | |
| XM_011530410.3:c.1090_1091delinsTT | XP_011528712.1:p.Pro364Leu | |
| XM_017028961.2:c.1444_1445delinsTT | XP_016884450.1:p.Pro482Leu | |
| XM_017028962.2:c.1444_1445delinsTT | XP_016884451.1:p.Pro482Leu | |
| XM_017028963.2:c.1444_1445delinsTT | XP_016884452.1:p.Pro482Leu | |
| XM_017028964.2:c.1441_1442delinsTT | XP_016884453.1:p.Pro481Leu | |
| XM_017028965.2:c.619_620delinsTT | XP_016884454.1:p.Pro207Leu | |
| XR_001755317.2:n.1593_1594delinsTT | ||
| NM_001135774.2:c.1441_1442delinsTT | NP_001129246.1:p.Pro481Leu | |
| NM_001369907.1:c.1444_1445delinsTT | NP_001356836.1:p.Pro482Leu | |
| NM_001369908.1:c.1444_1445delinsTT | NP_001356837.1:p.Pro482Leu | |
| NM_001369909.1:c.1441_1442delinsTT | NP_001356838.1:p.Pro481Leu | |
| NM_001369910.1:c.1441_1442delinsTT | NP_001356839.1:p.Pro481Leu | |
| NM_003490.4:c.1444_1445delinsTT MANE Select | NP_003481.3:p.Pro482Leu | |
| NM_133633.3:c.1319-4385_1319-4384delinsTT | NP_598344.2:n.1319-4385_1319-4384delinsTT... |