Linked Data
ClinVar Variation Id:
203835
dbSNP Id:
rs796052000
ExAC:
1:45973932 CCCAA / C
gnomAD v2:
1-45973932-CCCAA-C
gnomAD v3:
1-45508260-CCCAA-C
gnomAD v4:
1-45508260-CCCAA-C
MyVariant Identifiers:
chr1:g.45973935_45973938del (hg19)
chr1:g.45973933_45973936del (hg19)
chr1:g.45508263_45508266del (hg38)
chr1:g.45508261_45508264del (hg38)
PubMed:
PMID:19370762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508263_45508266del , CM000663.2:g.45508263_45508266del | GRCh38 |
| NC_000001.10:g.45973935_45973938del , CM000663.1:g.45973935_45973938del | GRCh37 |
| NC_000001.9:g.45746522_45746525del | NCBI36 |
| NG_013378.1:g.13080_13083del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.328_331del MANE Select | ENSP00000383840.4:p.Asn110AspfsTer13 | |
| ENST00000401061.8:c.328_331del | ENSP00000383840.4:p.Asn110AspfsTer13 | |
| ENST00000616135.1:c.157_160del | ENSP00000478859.1:p.Asn53AspfsTer13 | |
| NM_015506.2:c.328_331del | NP_056321.2:p.Asn110AspfsTer13 | |
| XM_005270724.3:c.133_136del | XP_005270781.1:p.Asn45AspfsTer13 | |
| XM_011541204.1:c.157_160del | XP_011539506.1:p.Asn53AspfsTer13 | |
| NM_001330540.1:c.157_160del | NP_001317469.1:p.Asn53AspfsTer13 | |
| XM_005270724.5:c.133_136del | XP_005270781.1:p.Asn45AspfsTer13 | |
| NM_015506.3:c.328_331del MANE Select | NP_056321.2:p.Asn110AspfsTer13 | |
| NM_001330540.2:c.157_160del | NP_001317469.1:p.Asn53AspfsTer13 |