Linked Data
ClinVar Variation Id:
319586
ClinVar RCV Id:
RCV000312169
dbSNP Id:
rs35929381
gnomAD v2:
16-51170434-CA-C
gnomAD v3:
16-51136523-CA-C
gnomAD v4:
16-51136523-CA-C
MyVariant Identifiers:
chr16:g.51170436del (hg19)
chr16:g.51170435del (hg19)
chr16:g.51136525del (hg38)
chr16:g.51136524del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.51136532del , CM000678.2:g.51136532del | GRCh38 |
| NC_000016.9:g.51170443del , CM000678.1:g.51170443del | GRCh37 |
| NC_000016.8:g.49727944del | NCBI36 |
| NG_007990.1:g.19749del , LRG_674:g.19749del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440970.6:c.*588del | ENSP00000407914.2:n.*588del | |
| ENST00000685868.1:c.*588del | ENSP00000509873.1:n.*588del | |
| ENST00000251020.9:c.*588del MANE Select | ENSP00000251020.4:n.*588del | |
| ENST00000251020.8:c.*588del | ENSP00000251020.4:n.*588del | |
| ENST00000440970.5:c.*588del | ENSP00000407914.1:n.*588del | |
| NM_001127892.1:c.*588del | NP_001121364.1:n.*588del | |
| NM_002968.2:c.*588del , LRG_674t1:c.*588del | NP_002959.2:n.*588del | |
| XM_006721241.2:c.*588del | XP_006721304.1:n.*588del | |
| XM_011523254.1:c.*588del | XP_011521556.1:n.*588del | |
| XM_011523255.1:c.*588del | XP_011521557.1:n.*588del | |
| NM_002968.3:c.*588del MANE Select | NP_002959.2:n.*588del | |
| NM_001127892.2:c.*588del | NP_001121364.1:n.*588del |