UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
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 |