Linked Data
ClinVar Variation Id:
21716
ClinVar RCV Id:
RCV000020919
dbSNP Id:
rs193302850
gnomAD v2:
16-1412098-GTGACGCCTGCCGT-G
gnomAD v3:
16-1362097-GTGACGCCTGCCGT-G
gnomAD v4:
16-1362097-GTGACGCCTGCCGT-G
MyVariant Identifiers:
chr16:g.1412100_1412112del (hg19)
chr16:g.1412099_1412111del (hg19)
chr16:g.1362099_1362111del (hg38)
chr16:g.1362098_1362110del (hg38)
PubMed:
PMID:20301784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362099_1362111del , CM000678.2:g.1362099_1362111del | GRCh38 |
| NC_000016.9:g.1412100_1412112del , CM000678.1:g.1412100_1412112del | GRCh37 |
| NC_000016.8:g.1352101_1352113del | NCBI36 |
| NG_016985.1:g.15201_15213del | |
| NG_033129.1:g.57595_57607del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.478_490del | ||
| ENST00000529110.2:c.463_475del | ENSP00000435349.2:p.Asp155ProfsTer? | |
| ENST00000529957.6:n.437_449del | ||
| ENST00000683366.1:c.*111_*123del | ENSP00000507283.1:n.*111_*123del | |
| ENST00000683887.1:c.427_439del | ENSP00000506886.1:p.Asp143ProfsTer? | |
| ENST00000684100.1:n.373_385del | ||
| ENST00000684126.1:n.437_449del | ||
| ENST00000684688.1:n.1004_1016del | ||
| ENST00000204679.9:c.379_391del MANE Select | ENSP00000204679.4:p.Asp127ProfsTer? | |
| ENST00000204679.8:c.379_391del | ENSP00000204679.4:p.Asp127ProfsTer? | |
| ENST00000526820.5:c.*281_*293del | ENSP00000434413.1:n.*281_*293del | |
| ENST00000527076.1:n.1395_1407del | ||
| ENST00000527168.5:n.415_427del | ||
| ENST00000529110.1:c.446_458del | ||
| ENST00000529957.5:n.478_490del | ||
| NM_032520.4:c.379_391del | NP_115909.1:p.Asp127ProfsTer? | |
| XM_017023782.1:c.427_439del | XP_016879271.1:p.Asp143ProfsTer? | |
| XM_017023783.1:c.19_31del | XP_016879272.1:p.Asp7ProfsTer? | |
| NM_032520.5:c.379_391del MANE Select | NP_115909.1:p.Asp127ProfsTer? |