Linked Data
dbSNP Id:
rs1567085869
ExAC:
15:91425096 GAGCGCCCTCTGATGAGCCCACTGCCCACCCCCTCAAGCCAATCCCCTCCTTGGGCACTTTTTAATTCACCAAAGTATTTTTTT / G
gnomAD v2:
15-91425096-GAGCGCCCTCTGATGAGCCCACTGCCCACCCCCTCAAGCCAATCCCCTCCTTGGGCACTTTTTAATTCACCAAAGTATTTTTTT-G
gnomAD v4:
15-90881866-GAGCGCCCTCTGATGAGCCCACTGCCCACCCCCTCAAGCCAATCCCCTCCTTGGGCACTTTTTAATTCACCAAAGTATTTTTTT-G
MyVariant Identifiers:
chr15:g.91425097_91425179del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90881868_90881950del , CM000677.2:g.90881868_90881950del | GRCh38 |
| NC_000015.9:g.91425098_91425180del , CM000677.1:g.91425098_91425180del | GRCh37 |
| NC_000015.8:g.89226102_89226184del | NCBI36 |
| NG_029671.1:g.2411_2493del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268171.8:c.2375_*72del MANE Select | ENSP00000268171.2:n.[c.2375_*72del;Ser792IlefsTer?] | |
| ENST00000680053.1:c.2375_*72del | ENSP00000506143.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| ENST00000680086.1:n.323+131_323+213del | ||
| ENST00000680687.1:c.*1599_*1681del | ENSP00000505177.1:n.*1599_*1681del | |
| ENST00000681804.1:c.*1735_*1817del | ENSP00000505828.1:n.*1735_*1817del | |
| ENST00000681865.1:c.2369_*72del | ENSP00000505303.1:n.[c.2369_*72del;Ser790IlefsTer?] | |
| ENST00000268171.7:c.2375_*72del | ENSP00000268171.2:n.[c.2375_*72del;Ser792IlefsTer?] | |
| ENST00000610579.4:c.2375_*72del | ENSP00000484952.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| ENST00000618099.4:c.2375_*72del | ENSP00000483552.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001289823.1:c.2375_*72del | NP_001276752.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001289824.1:c.2375_*72del | NP_001276753.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_002569.3:c.2375_*72del | NP_002560.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_002569.4:c.2375_*72del MANE Select | NP_002560.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001289823.2:c.2375_*72del | NP_001276752.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001289824.2:c.2375_*72del | NP_001276753.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001382619.1:c.2375_*72del | NP_001369548.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001382620.1:c.2375_*72del | NP_001369549.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001382621.1:c.2375_*72del | NP_001369550.1:n.[c.2375_*72del;Ser792IlefsTer?] | |
| NM_001382622.1:c.*406_*488del | NP_001369551.1:n.*406_*488del | |
| NR_168464.1:n.2598_2680del |