Linked Data
ClinVar Variation Id:
555910
ClinVar RCV Id:
RCV000671828
dbSNP Id:
rs1555528265
MyVariant Identifiers:
chr17:g.7221950_7221951del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221950_7221951del , CM000679.2:g.7221950_7221951del | GRCh38 |
| NC_000017.10:g.7125269_7125270del , CM000679.1:g.7125269_7125270del | GRCh37 |
| NC_000017.9:g.7065993_7065994del | NCBI36 |
| NG_007975.1:g.7117_7118del | |
| NG_008391.2:g.3100_3101del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.623-2_623-1del MANE Select | ENSP00000349297.5:n.623-2_623-1del | |
| ENST00000322910.9:c.*578-2_*578-1del | ENSP00000325395.5:n.*578-2_*578-1del | |
| ENST00000350303.9:c.557-2_557-1del | ENSP00000344152.5:n.557-2_557-1del | |
| ENST00000356839.9:c.623-2_623-1del | ENSP00000349297.5:n.623-2_623-1del | |
| ENST00000543245.6:c.692-2_692-1del | ENSP00000438689.2:n.692-2_692-1del | |
| ENST00000577191.5:n.700-2_700-1del | ||
| ENST00000577857.5:n.439-2_439-1del | ||
| ENST00000579286.5:n.804-2_804-1del | ||
| ENST00000579886.2:c.461-2_461-1del | ENSP00000463246.1:n.461-2_461-1del | |
| ENST00000580365.1:n.354-2_354-1del | ||
| ENST00000581378.5:c.341-2_341-1del | ||
| ENST00000581562.5:n.525-2_525-1del | ||
| ENST00000582379.1:n.5_6del | ||
| ENST00000583312.5:c.636_637del | ENSP00000467920.1:p.Glu214AspfsTer? | |
| ENST00000583760.1:n.405-2_405-1del | ||
| NM_000018.3:c.623-2_623-1del | NP_000009.1:n.623-2_623-1del | |
| NM_001033859.2:c.557-2_557-1del | NP_001029031.1:n.557-2_557-1del | |
| NM_001270447.1:c.692-2_692-1del | NP_001257376.1:n.692-2_692-1del | |
| NM_001270448.1:c.395-2_395-1del | NP_001257377.1:n.395-2_395-1del | |
| XM_006721516.2:c.623-2_623-1del | XP_006721579.2:n.623-2_623-1del | |
| XM_011523829.1:c.623-2_623-1del | XP_011522131.1:n.623-2_623-1del | |
| XM_011523830.1:c.623-2_623-1del | XP_011522132.1:n.623-2_623-1del | |
| XR_934021.1:n.730-2_730-1del | ||
| XR_934022.1:n.730-2_730-1del | ||
| XR_934023.1:n.730-2_730-1del | ||
| XM_006721516.3:c.623-2_623-1del | XP_006721579.2:n.623-2_623-1del | |
| XM_011523829.2:c.623-2_623-1del | XP_011522131.1:n.623-2_623-1del | |
| XM_011523830.2:c.623-2_623-1del | XP_011522132.1:n.623-2_623-1del | |
| XM_024450741.1:c.623-2_623-1del | XP_024306509.1:n.623-2_623-1del | |
| XR_934021.2:n.682-2_682-1del | ||
| XR_934022.2:n.682-2_682-1del | ||
| XR_934023.2:n.682-2_682-1del | ||
| NM_000018.4:c.623-2_623-1del MANE Select | NP_000009.1:n.623-2_623-1del | |
| NM_001033859.3:c.557-2_557-1del | NP_001029031.1:n.557-2_557-1del | |
| NM_001270447.2:c.692-2_692-1del | NP_001257376.1:n.692-2_692-1del | |
| NM_001270448.2:c.395-2_395-1del | NP_001257377.1:n.395-2_395-1del |