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:
45240
ClinVar RCV Id:
RCV000038396
dbSNP Id:
rs397517100
MyVariant Identifiers:
chr7:g.55242482_55242507delinsAA (hg19)
chr7:g.55174789_55174814delinsAA (hg38)
PubMed:
PMID:17368623
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55174789_55174814delinsAA , CM000669.2:g.55174789_55174814delinsAA | GRCh38 |
| NC_000007.13:g.55242482_55242507delinsAA , CM000669.1:g.55242482_55242507delinsAA | GRCh37 |
| NC_000007.12:g.55209976_55210001delinsAA | NCBI36 |
| NG_007726.3:g.160758_160783delinsAA , LRG_304:g.160758_160783delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450046.2:c.2093_2118delinsAA | ENSP00000413354.2:p.Thr698_Ile706delinsLy... | |
| ENST00000700145.1:c.601_626delinsAA | ||
| ENST00000275493.7:c.2252_2277delinsAA MANE Select | ENSP00000275493.2:p.Thr751_Ile759delinsLy... | |
| ENST00000275493.6:c.2252_2277delinsAA | ENSP00000275493.2:p.Thr751_Ile759delinsLy... | |
| ENST00000442591.5:c.*28+1861_*28+1886delinsAA | ENSP00000410031.1:n.*28+1861_*28+1886deli... | |
| ENST00000454757.6:c.2117_2142delinsAA | ENSP00000395243.3:p.Thr706_Ile714delinsLy... | |
| ENST00000455089.5:c.2117_2142delinsAA | ENSP00000415559.1:p.Thr706_Ile714delinsLy... | |
| NM_005228.3:c.2252_2277delinsAA , LRG_304t1:c.2252_2277delinsAA | NP_005219.2:p.Thr751_Ile759delinsLys | |
| NM_001346897.1:c.2117_2142delinsAA | NP_001333826.1:p.Thr706_Ile714delinsLys | |
| NM_001346898.1:c.2252_2277delinsAA | NP_001333827.1:p.Thr751_Ile759delinsLys | |
| NM_001346899.1:c.2117_2142delinsAA | NP_001333828.1:p.Thr706_Ile714delinsLys | |
| NM_001346900.1:c.2093_2118delinsAA | NP_001333829.1:p.Thr698_Ile706delinsLys | |
| NM_001346941.1:c.1451_1476delinsAA | NP_001333870.1:p.Thr484_Ile492delinsLys | |
| NM_005228.4:c.2252_2277delinsAA | NP_005219.2:p.Thr751_Ile759delinsLys | |
| NM_005228.5:c.2252_2277delinsAA MANE Select | NP_005219.2:p.Thr751_Ile759delinsLys | |
| NM_001346897.2:c.2117_2142delinsAA | NP_001333826.1:p.Thr706_Ile714delinsLys | |
| NM_001346898.2:c.2252_2277delinsAA | NP_001333827.1:p.Thr751_Ile759delinsLys | |
| NM_001346900.2:c.2093_2118delinsAA | NP_001333829.1:p.Thr698_Ile706delinsLys | |
| NM_001346941.2:c.1451_1476delinsAA | NP_001333870.1:p.Thr484_Ile492delinsLys | |
| NM_001346899.2:c.2117_2142delinsAA | NP_001333828.1:p.Thr706_Ile714delinsLys |