Linked Data
ClinVar Variation Id:
557216
ClinVar RCV Id:
RCV000673326
dbSNP Id:
rs1555528346
MyVariant Identifiers:
chr17:g.7222183_7222185del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222183_7222185del , CM000679.2:g.7222183_7222185del | GRCh38 |
| NC_000017.10:g.7125502_7125504del , CM000679.1:g.7125502_7125504del | GRCh37 |
| NC_000017.9:g.7066226_7066228del | NCBI36 |
| NG_007975.1:g.7350_7352del | |
| NG_008391.2:g.2868_2870del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.759_761del MANE Select | ENSP00000349297.5:p.Gly254del | |
| ENST00000322910.9:c.*714_*716del | ENSP00000325395.5:n.*714_*716del | |
| ENST00000350303.9:c.693_695del | ENSP00000344152.5:p.Gly232del | |
| ENST00000356839.9:c.759_761del | ENSP00000349297.5:p.Gly254del | |
| ENST00000543245.6:c.828_830del | ENSP00000438689.2:p.Gly277del | |
| ENST00000577191.5:n.931_933del | ||
| ENST00000581378.5:c.477_479del | ||
| ENST00000582379.1:n.143_145del | ||
| NM_000018.3:c.759_761del | NP_000009.1:p.Gly254del | |
| NM_001033859.2:c.693_695del | NP_001029031.1:p.Gly232del | |
| NM_001270447.1:c.828_830del | NP_001257376.1:p.Gly277del | |
| NM_001270448.1:c.531_533del | NP_001257377.1:p.Gly178del | |
| XM_006721516.2:c.759_761del | XP_006721579.2:p.Gly254del | |
| XM_011523829.1:c.759_761del | XP_011522131.1:p.Gly254del | |
| XM_011523830.1:c.759_761del | XP_011522132.1:p.Gly254del | |
| XR_934021.1:n.866_868del | ||
| XR_934022.1:n.866_868del | ||
| XR_934023.1:n.866_868del | ||
| XM_006721516.3:c.759_761del | XP_006721579.2:p.Gly254del | |
| XM_011523829.2:c.759_761del | XP_011522131.1:p.Gly254del | |
| XM_011523830.2:c.759_761del | XP_011522132.1:p.Gly254del | |
| XM_024450741.1:c.759_761del | XP_024306509.1:p.Gly254del | |
| XR_934021.2:n.818_820del | ||
| XR_934022.2:n.818_820del | ||
| XR_934023.2:n.818_820del | ||
| NM_000018.4:c.759_761del MANE Select | NP_000009.1:p.Gly254del | |
| NM_001033859.3:c.693_695del | NP_001029031.1:p.Gly232del | |
| NM_001270447.2:c.828_830del | NP_001257376.1:p.Gly277del | |
| NM_001270448.2:c.531_533del | NP_001257377.1:p.Gly178del |