Linked Data
dbSNP Id:
rs1847876102
gnomAD v3:
10-86756805-CGGGGCCGCT-C
gnomAD v4:
10-86756805-CGGGGCCGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86756807_86756815del , CM000672.2:g.86756807_86756815del | GRCh38 |
| NC_000010.10:g.88516564_88516572del , CM000672.1:g.88516564_88516572del | GRCh37 |
| NC_000010.9:g.88506544_88506552del | NCBI36 |
| NG_009362.1:g.5169_5177del , LRG_298:g.5169_5177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480152.3:c.-485_-477del | ENSP00000483569.2:n.-485_-477del | |
| ENST00000635816.2:c.-380_-372del | ENSP00000489707.1:n.-380_-372del | |
| ENST00000636056.2:c.-380_-372del | ENSP00000490273.1:n.-380_-372del | |
| ENST00000372037.8:c.-380_-372del MANE Select | ENSP00000361107.2:n.-380_-372del | |
| ENST00000638429.1:c.-380_-372del | ENSP00000492290.1:n.-380_-372del | |
| ENST00000372037.7:c.-380_-372del | ENSP00000361107.1:n.-380_-372del | |
| NM_004329.2:c.-380_-372del , LRG_298t1:c.-380_-372del | NP_004320.2:n.-380_-372del | |
| XM_011540103.1:c.-268+844_-268+852del | XP_011538405.1:n.-268+844_-268+852del | |
| XM_011540104.1:c.-485_-477del | XP_011538406.1:n.-485_-477del | |
| XM_011540103.2:c.-268+844_-268+852del | XP_011538405.1:n.-268+844_-268+852del | |
| XM_011540104.2:c.-485_-477del | XP_011538406.1:n.-485_-477del | |
| NM_004329.3:c.-380_-372del MANE Select | NP_004320.2:n.-380_-372del |