Linked Data
ClinVar Variation Id:
553583
ClinVar RCV Id:
RCV000669061
dbSNP Id:
rs771055189
ExAC:
17:7123830 GA / G
gnomAD v2:
17-7123830-GA-G
gnomAD v3:
17-7220511-GA-G
gnomAD v4:
17-7220511-GA-G
MyVariant Identifiers:
chr17:g.7123831del (hg19)
chr17:g.7220517del (hg38)
chr17:g.7220512del (hg38)
ERepo:
CA8337581/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220517del , CM000679.2:g.7220517del | GRCh38 |
| NC_000017.10:g.7123836del , CM000679.1:g.7123836del | GRCh37 |
| NC_000017.9:g.7064560del | NCBI36 |
| NG_007975.1:g.5684del | |
| NG_008391.2:g.4539del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.192del MANE Select | ENSP00000349297.5:p.Lys64AsnfsTer? | |
| ENST00000322910.9:c.*147del | ENSP00000325395.5:n.*147del | |
| ENST00000350303.9:c.139-87del | ENSP00000344152.5:n.139-87del | |
| ENST00000356839.9:c.192del | ENSP00000349297.5:p.Lys64AsnfsTer? | |
| ENST00000543245.6:c.261del | ENSP00000438689.2:p.Lys87AsnfsTer? | |
| ENST00000577191.5:n.269del | ||
| ENST00000577433.5:n.326del | ||
| ENST00000577857.5:n.229-249del | ||
| ENST00000578269.5:n.565del | ||
| ENST00000578421.1:n.326del | ||
| ENST00000579286.5:n.299del | ||
| ENST00000579886.2:c.192del | ENSP00000463246.1:p.Lys64AsnfsTer? | |
| ENST00000580263.5:n.282del | ||
| ENST00000581562.5:n.239del | ||
| ENST00000582056.5:n.282del | ||
| ENST00000582166.1:n.80del | ||
| ENST00000582356.5:n.317del | ||
| ENST00000583312.5:c.192del | ENSP00000467920.1:p.Lys64AsnfsTer? | |
| ENST00000584103.5:c.192del | ENSP00000465353.1:p.Lys64AsnfsTer? | |
| NM_000018.3:c.192del | NP_000009.1:p.Lys64AsnfsTer? | |
| NM_001033859.2:c.139-87del | NP_001029031.1:n.139-87del | |
| NM_001270447.1:c.261del | NP_001257376.1:p.Lys87AsnfsTer? | |
| NM_001270448.1:c.-37del | NP_001257377.1:n.-37del | |
| XM_006721516.2:c.192del | XP_006721579.2:p.Lys64AsnfsTer? | |
| XM_011523829.1:c.192del | XP_011522131.1:p.Lys64AsnfsTer? | |
| XM_011523830.1:c.192del | XP_011522132.1:p.Lys64AsnfsTer? | |
| XR_934021.1:n.299del | ||
| XR_934022.1:n.299del | ||
| XR_934023.1:n.299del | ||
| XM_006721516.3:c.192del | XP_006721579.2:p.Lys64AsnfsTer? | |
| XM_011523829.2:c.192del | XP_011522131.1:p.Lys64AsnfsTer? | |
| XM_011523830.2:c.192del | XP_011522132.1:p.Lys64AsnfsTer? | |
| XM_024450741.1:c.192del | XP_024306509.1:p.Lys64AsnfsTer? | |
| XR_934021.2:n.251del | ||
| XR_934022.2:n.251del | ||
| XR_934023.2:n.251del | ||
| NM_000018.4:c.192del MANE Select | NP_000009.1:p.Lys64AsnfsTer? | |
| NM_001033859.3:c.139-87del | NP_001029031.1:n.139-87del | |
| NM_001270447.2:c.261del | NP_001257376.1:p.Lys87AsnfsTer? | |
| NM_001270448.2:c.-37del | NP_001257377.1:n.-37del |