Linked Data
dbSNP Id:
rs193302849
ExAC:
16:1412062 CCAA / C
gnomAD v2:
16-1412062-CCAA-C
gnomAD v3:
16-1362061-CCAA-C
gnomAD v4:
16-1362061-CCAA-C
MyVariant Identifiers:
chr16:g.1412068_1412070del (hg19)
chr16:g.1412063_1412065del (hg19)
chr16:g.1362067_1362069del (hg38)
chr16:g.1362062_1362064del (hg38)
PubMed:
PMID:20301784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362067_1362069del , CM000678.2:g.1362067_1362069del | GRCh38 |
| NC_000016.9:g.1412068_1412070del , CM000678.1:g.1412068_1412070del | GRCh37 |
| NC_000016.8:g.1352069_1352071del | NCBI36 |
| NG_016985.1:g.15169_15171del | |
| NG_033129.1:g.57641_57643del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.446_448del | ||
| ENST00000529110.2:c.431_433del | ENSP00000435349.2:p.Asn144del | |
| ENST00000529957.6:n.405_407del | ||
| ENST00000683366.1:c.*79_*81del | ENSP00000507283.1:n.*79_*81del | |
| ENST00000683887.1:c.395_397del | ENSP00000506886.1:p.Asn132del | |
| ENST00000684100.1:n.341_343del | ||
| ENST00000684126.1:n.405_407del | ||
| ENST00000684688.1:n.972_974del | ||
| ENST00000204679.9:c.347_349del MANE Select | ENSP00000204679.4:p.Asn116del | |
| ENST00000204679.8:c.347_349del | ENSP00000204679.4:p.Asn116del | |
| ENST00000526820.5:c.*249_*251del | ENSP00000434413.1:n.*249_*251del | |
| ENST00000527076.1:n.1363_1365del | ||
| ENST00000527168.5:n.383_385del | ||
| ENST00000529110.1:c.414_416del | ||
| ENST00000529957.5:n.446_448del | ||
| NM_032520.4:c.347_349del | NP_115909.1:p.Asn116del | |
| XM_017023782.1:c.395_397del | XP_016879271.1:p.Asn132del | |
| XM_017023783.1:c.-14_-12del | XP_016879272.1:n.-14_-12del | |
| NM_032520.5:c.347_349del MANE Select | NP_115909.1:p.Asn116del |