Linked Data
ClinVar Variation Id:
370717
dbSNP Id:
rs1057516714
gnomAD v2:
17-7125288-TTCTG-T
gnomAD v3:
17-7221969-TTCTG-T
gnomAD v4:
17-7221969-TTCTG-T
MyVariant Identifiers:
chr17:g.7125292_7125295del (hg19)
chr17:g.7125289_7125292del (hg19)
chr17:g.7125292_7125295delGTCT (hg19)
chr17:g.7221973_7221976del (hg38)
chr17:g.7221970_7221973del (hg38)
ERepo:
CA16041862/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221973_7221976del , CM000679.2:g.7221973_7221976del | GRCh38 |
| NC_000017.10:g.7125292_7125295del , CM000679.1:g.7125292_7125295del | GRCh37 |
| NC_000017.9:g.7066016_7066019del | NCBI36 |
| NG_007975.1:g.7140_7143del | |
| NG_008391.2:g.3078_3081del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.644_647del MANE Select | ENSP00000349297.5:p.Cys215Ter | |
| ENST00000322910.9:c.*599_*602del | ENSP00000325395.5:n.*599_*602del | |
| ENST00000350303.9:c.578_581del | ENSP00000344152.5:p.Cys193Ter | |
| ENST00000356839.9:c.644_647del | ENSP00000349297.5:p.Cys215Ter | |
| ENST00000543245.6:c.713_716del | ENSP00000438689.2:p.Cys238Ter | |
| ENST00000577191.5:n.721_724del | ||
| ENST00000577857.5:n.460_463del | ||
| ENST00000579286.5:n.825_828del | ||
| ENST00000580365.1:n.375_378del | ||
| ENST00000581378.5:c.362_365del | ||
| ENST00000581562.5:n.546_549del | ||
| ENST00000582379.1:n.28_31del | ||
| ENST00000583312.5:c.659_662del | ENSP00000467920.1:p.Cys220Ter | |
| ENST00000583760.1:n.426_429del | ||
| NM_000018.3:c.644_647del | NP_000009.1:p.Cys215Ter | |
| NM_001033859.2:c.578_581del | NP_001029031.1:p.Cys193Ter | |
| NM_001270447.1:c.713_716del | NP_001257376.1:p.Cys238Ter | |
| NM_001270448.1:c.416_419del | NP_001257377.1:p.Cys139Ter | |
| XM_006721516.2:c.644_647del | XP_006721579.2:p.Cys215Ter | |
| XM_011523829.1:c.644_647del | XP_011522131.1:p.Cys215Ter | |
| XM_011523830.1:c.644_647del | XP_011522132.1:p.Cys215Ter | |
| XR_934021.1:n.751_754del | ||
| XR_934022.1:n.751_754del | ||
| XR_934023.1:n.751_754del | ||
| XM_006721516.3:c.644_647del | XP_006721579.2:p.Cys215Ter | |
| XM_011523829.2:c.644_647del | XP_011522131.1:p.Cys215Ter | |
| XM_011523830.2:c.644_647del | XP_011522132.1:p.Cys215Ter | |
| XM_024450741.1:c.644_647del | XP_024306509.1:p.Cys215Ter | |
| XR_934021.2:n.703_706del | ||
| XR_934022.2:n.703_706del | ||
| XR_934023.2:n.703_706del | ||
| NM_000018.4:c.644_647del MANE Select | NP_000009.1:p.Cys215Ter | |
| NM_001033859.3:c.578_581del | NP_001029031.1:p.Cys193Ter | |
| NM_001270447.2:c.713_716del | NP_001257376.1:p.Cys238Ter | |
| NM_001270448.2:c.416_419del | NP_001257377.1:p.Cys139Ter |