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:
224879
ClinVar RCV Id:
RCV000210473
dbSNP Id:
rs869312908
gnomAD v4:
17-1777333-CTCACCTTCCCGCTGGACTA-C
PubMed:
PMID:25565926
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1777341_1777359del , CM000679.2:g.1777341_1777359del | GRCh38 |
| NC_000017.10:g.1680635_1680653del , CM000679.1:g.1680635_1680653del | GRCh37 |
| NC_000017.9:g.1627385_1627403del | NCBI36 |
| NG_028180.1:g.20377_20395del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254722.9:c.1152_1170del MANE Select | ENSP00000254722.4:p.Phe384LeufsTer9 | |
| ENST00000254722.8:c.1152_1170del | ENSP00000254722.4:p.Phe384LeufsTer9 | |
| ENST00000572517.1:n.448_466del | ||
| NM_002615.5:c.1152_1170del | NP_002606.3:p.Phe384LeufsTer9 | |
| NM_001329903.1:c.1152_1170del | NP_001316832.1:p.Phe384LeufsTer9 | |
| NM_001329904.1:c.591_609del | NP_001316833.1:p.Phe197LeufsTer9 | |
| NM_001329905.1:c.591_609del | NP_001316834.1:p.Phe197LeufsTer9 | |
| NM_002615.6:c.1152_1170del | NP_002606.3:p.Phe384LeufsTer9 | |
| NM_002615.7:c.1152_1170del MANE Select | NP_002606.3:p.Phe384LeufsTer9 | |
| NM_001329903.2:c.1152_1170del | NP_001316832.1:p.Phe384LeufsTer9 | |
| NM_001329904.2:c.591_609del | NP_001316833.1:p.Phe197LeufsTer9 | |
| NM_001329905.2:c.591_609del | NP_001316834.1:p.Phe197LeufsTer9 |