Linked Data
ClinVar Variation Id:
371461
ClinVar RCV Id:
RCV000408984
dbSNP Id:
rs1057517289
gnomAD v4:
15-34236021-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34236022dup , CM000677.2:g.34236022dup | GRCh38 |
| NC_000015.9:g.34528223dup , CM000677.1:g.34528223dup | GRCh37 |
| NC_000015.8:g.32315515dup | NCBI36 |
| NG_007951.1:g.107043dup , LRG_270:g.107043dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354181.8:c.3220dup MANE Select | ENSP00000346112.3:p.Met1074AsnfsTer23 | |
| ENST00000676379.1:c.3220dup | ENSP00000502539.1:p.Met1074AsnfsTer23 | |
| ENST00000290209.9:c.3067dup | ENSP00000290209.5:p.Met1023AsnfsTer23 | |
| ENST00000354181.7:c.3220dup | ENSP00000346112.3:p.Met1074AsnfsTer23 | |
| ENST00000397702.6:c.3043dup | ENSP00000380814.2:p.Met1015AsnfsTer23 | |
| ENST00000397707.6:c.3175dup | ENSP00000380819.2:p.Met1059AsnfsTer23 | |
| ENST00000458406.6:c.3043dup | ENSP00000387725.2:p.Met1015AsnfsTer23 | |
| ENST00000558589.5:c.3193dup | ENSP00000452776.1:p.Met1065AsnfsTer23 | |
| ENST00000558667.5:c.3220dup | ENSP00000453473.1:p.Met1074AsnfsTer23 | |
| ENST00000559523.5:c.*243dup | ENSP00000452904.1:n.*243dup | |
| ENST00000559664.5:c.*429dup | ENSP00000453702.1:n.*429dup | |
| ENST00000560164.5:c.2656dup | ENSP00000452705.1:p.Met886AsnfsTer23 | |
| ENST00000560611.5:c.3220dup | ENSP00000454168.1:p.Met1074AsnfsTer23 | |
| ENST00000561080.5:c.*458dup | ENSP00000454069.1:n.*458dup | |
| NM_001042494.1:c.3043dup | NP_001035959.1:p.Met1015AsnfsTer23 | |
| NM_001042495.1:c.3043dup | NP_001035960.1:p.Met1015AsnfsTer23 | |
| NM_001042496.1:c.3193dup | NP_001035961.1:p.Met1065AsnfsTer23 | |
| NM_001042497.1:c.3175dup | NP_001035962.1:p.Met1059AsnfsTer23 | |
| NM_005135.2:c.3067dup , LRG_270t1:c.3067dup | NP_005126.1:p.Met1023AsnfsTer23 | |
| NM_133647.1:c.3220dup , LRG_270t2:c.3220dup | NP_598408.1:p.Met1074AsnfsTer23 | |
| XM_006720793.2:c.3073dup | XP_006720856.1:p.Met1025AsnfsTer23 | |
| XM_011522267.1:c.3220dup | XP_011520569.1:p.Met1074AsnfsTer23 | |
| XM_011522268.1:c.3220dup | XP_011520570.1:p.Met1074AsnfsTer23 | |
| XR_429476.2:n.3226dup | ||
| NM_001365088.1:c.3220dup MANE Select | NP_001352017.1:p.Met1074AsnfsTer23 | |
| XM_006720793.4:c.3073dup | XP_006720856.1:p.Met1025AsnfsTer23 | |
| XR_931960.3:n.4499dup | ||
| NM_001042494.2:c.3043dup | NP_001035959.1:p.Met1015AsnfsTer23 | |
| NM_001042495.2:c.3043dup | NP_001035960.1:p.Met1015AsnfsTer23 | |
| NM_001042496.2:c.3193dup | NP_001035961.1:p.Met1065AsnfsTer23 | |
| NM_001042497.2:c.3175dup | NP_001035962.1:p.Met1059AsnfsTer23 | |
| NM_133647.2:c.3220dup | NP_598408.1:p.Met1074AsnfsTer23 |