Linked Data
ClinVar Variation Id:
229907
dbSNP Id:
rs876658261
gnomAD v2:
16-68849583-TCCGAGGA-T
gnomAD v4:
16-68815680-TCCGAGGA-T
MyVariant Identifiers:
chr16:g.68849585_68849591del (hg19)
chr16:g.68849584_68849590del (hg19)
chr16:g.68815682_68815688del (hg38)
chr16:g.68815681_68815687del (hg38)
PubMed:
PMID:10477433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68815682_68815688del , CM000678.2:g.68815682_68815688del | GRCh38 |
| NC_000016.9:g.68849585_68849591del , CM000678.1:g.68849585_68849591del | GRCh37 |
| NC_000016.8:g.67407086_67407092del | NCBI36 |
| NG_008021.1:g.83391_83397del , LRG_301:g.83391_83397del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1488_1494del MANE Select | ENSP00000261769.4:p.Glu497LeufsTer23 | |
| ENST00000261769.9:c.1488_1494del | ENSP00000261769.4:p.Glu497LeufsTer23 | |
| ENST00000422392.6:c.1305_1311del | ENSP00000414946.2:p.Glu436LeufsTer23 | |
| ENST00000562836.5:n.1559_1565del | ||
| ENST00000566510.5:c.*154_*160del | ENSP00000458139.1:n.*154_*160del | |
| ENST00000566612.5:c.1488_1494del | ENSP00000454782.1:p.Glu497LeufsTer23 | |
| ENST00000611625.4:c.1551_1557del | ENSP00000481063.1:p.Glu518LeufsTer23 | |
| ENST00000612417.4:c.1488_1494del | ENSP00000478360.1:p.Glu497LeufsTer23 | |
| ENST00000621016.4:c.1488_1494del | ENSP00000480664.1:p.Glu497LeufsTer23 | |
| NM_004360.3:c.1488_1494del , LRG_301t1:c.1488_1494del | NP_004351.1:p.Glu497LeufsTer23 | |
| XM_011523488.1:c.753_759del | XP_011521790.1:p.Glu252LeufsTer23 | |
| XM_011523489.1:c.753_759del | XP_011521791.1:p.Glu252LeufsTer23 | |
| NM_001317184.1:c.1305_1311del | NP_001304113.1:p.Glu436LeufsTer23 | |
| NM_001317185.1:c.-61_-55del | NP_001304114.1:n.-61_-55del | |
| NM_001317186.1:c.-332_-326del | NP_001304115.1:n.-332_-326del | |
| NM_004360.4:c.1488_1494del | NP_004351.1:p.Glu497LeufsTer23 | |
| NM_004360.5:c.1488_1494del MANE Select | NP_004351.1:p.Glu497LeufsTer23 | |
| NM_001317184.2:c.1305_1311del | NP_001304113.1:p.Glu436LeufsTer23 | |
| NM_001317185.2:c.-61_-55del | NP_001304114.1:n.-61_-55del | |
| NM_001317186.2:c.-332_-326del | NP_001304115.1:n.-332_-326del |