Linked Data
ClinVar Variation Id:
2137000
ClinVar RCV Id:
RCV003037368
gnomAD v4:
11-17387239-CGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387243_17387245del , CM000673.2:g.17387243_17387245del | GRCh38 |
| NC_000011.9:g.17408790_17408792del , CM000673.1:g.17408790_17408792del | GRCh37 |
| NC_000011.8:g.17365366_17365368del | NCBI36 |
| NG_012446.1:g.6418_6420del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.589_591del | ENSP00000508090.1:p.Ile197del | |
| ENST00000682764.1:c.589_591del | ENSP00000506780.1:p.Ile197del | |
| ENST00000339994.5:c.850_852del MANE Select | ENSP00000345708.4:p.Ile284del | |
| ENST00000339994.4:c.850_852del | ENSP00000345708.4:p.Ile284del | |
| ENST00000528731.1:c.589_591del | ENSP00000434755.1:p.Ile197del | |
| NM_000525.3:c.850_852del | NP_000516.3:p.Ile284del | |
| NM_001166290.1:c.589_591del | NP_001159762.1:p.Ile197del | |
| XM_006718226.2:c.589_591del | XP_006718289.1:p.Ile197del | |
| XR_930867.1:n.1008_1010del | ||
| XM_006718226.3:c.589_591del | XP_006718289.1:p.Ile197del | |
| XM_017017680.1:c.589_591del | XP_016873169.1:p.Ile197del | |
| NM_001166290.2:c.589_591del | NP_001159762.1:p.Ile197del | |
| NM_001377296.1:c.589_591del | NP_001364225.1:p.Ile197del | |
| NM_001377297.1:c.589_591del | NP_001364226.1:p.Ile197del | |
| NM_000525.4:c.850_852del MANE Select | NP_000516.3:p.Ile284del |