Linked Data
ClinVar Variation Id:
163850
dbSNP Id:
rs727503129
gnomAD v2:
10-88476459-TC-T
gnomAD v3:
10-86716702-TC-T
gnomAD v4:
10-86716702-TC-T
MyVariant Identifiers:
chr10:g.88476461del (hg19)
chr10:g.88476460del (hg19)
chr10:g.86716704del (hg38)
chr10:g.86716703del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86716704del , CM000672.2:g.86716704del | GRCh38 |
| NC_000010.10:g.88476461del , CM000672.1:g.88476461del | GRCh37 |
| NC_000010.9:g.88466441del | NCBI36 |
| NG_008876.1:g.53141del , LRG_385:g.53141del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687154.1:n.515-2023del | ||
| ENST00000688001.1:c.1420del | ENSP00000508987.1:p.Gln474ArgfsTer28 | |
| ENST00000689296.1:c.1420del | ENSP00000510609.1:p.Gln474ArgfsTer28 | |
| ENST00000689740.1:c.1468del | ENSP00000510300.1:p.Gln490ArgfsTer28 | |
| ENST00000693680.1:c.1468del | ENSP00000509539.1:p.Gln490ArgfsTer28 | |
| ENST00000361373.9:c.1609del MANE Select | ENSP00000355296.3:p.Gln537ArgfsTer28 | |
| ENST00000429277.7:c.1279del | ENSP00000401437.3:p.Gln427ArgfsTer28 | |
| ENST00000623056.4:c.1624del | ENSP00000485500.1:p.Gln542ArgfsTer28 | |
| ENST00000263066.10:c.1279del | ENSP00000263066.6:p.Gln427ArgfsTer28 | |
| ENST00000361373.8:c.1609del | ENSP00000355296.3:p.Gln537ArgfsTer28 | |
| ENST00000429277.6:c.1624del | ENSP00000401437.2:p.Gln542ArgfsTer28 | |
| ENST00000623056.3:c.1624del | ENSP00000485500.1:p.Gln542ArgfsTer28 | |
| NM_001080114.1:c.1279del | NP_001073583.1:p.Gln427ArgfsTer28 | |
| NM_001171610.1:c.1624del | NP_001165081.1:p.Gln542ArgfsTer28 | |
| NM_007078.2:c.1609del , LRG_385t1:c.1609del | NP_009009.1:p.Gln537ArgfsTer28 | |
| XM_005269464.3:c.1609del | XP_005269521.1:p.Gln537ArgfsTer28 | |
| XM_005269466.3:c.1420del | XP_005269523.1:p.Gln474ArgfsTer28 | |
| XM_011539184.1:c.1861del | XP_011537486.1:p.Gln621ArgfsTer28 | |
| XM_011539185.1:c.1861del | XP_011537487.1:p.Gln621ArgfsTer28 | |
| XM_011539186.1:c.1813del | XP_011537488.1:p.Gln605ArgfsTer28 | |
| XM_011539187.1:c.1672del | XP_011537489.1:p.Gln558ArgfsTer28 | |
| XM_011539188.1:c.1657del | XP_011537490.1:p.Gln553ArgfsTer28 | |
| XM_011539189.1:c.1516del | XP_011537491.1:p.Gln506ArgfsTer28 | |
| XM_011539190.1:c.1468del | XP_011537492.1:p.Gln490ArgfsTer28 | |
| XM_011539191.1:c.1327del | XP_011537493.1:p.Gln443ArgfsTer28 | |
| XM_011539192.1:c.1312del | XP_011537494.1:p.Gln438ArgfsTer28 | |
| XM_011539193.1:c.817del | XP_011537495.1:p.Gln273ArgfsTer28 | |
| XM_011539194.1:c.628del | XP_011537496.1:p.Gln210ArgfsTer28 | |
| XM_005269464.4:c.1609del | XP_005269521.1:p.Gln537ArgfsTer28 | |
| XM_005269466.4:c.1420del | XP_005269523.1:p.Gln474ArgfsTer28 | |
| XM_011539184.2:c.1861del | XP_011537486.1:p.Gln621ArgfsTer28 | |
| XM_011539185.2:c.1861del | XP_011537487.1:p.Gln621ArgfsTer28 | |
| XM_011539186.2:c.1813del | XP_011537488.1:p.Gln605ArgfsTer28 | |
| XM_011539187.2:c.1672del | XP_011537489.1:p.Gln558ArgfsTer28 | |
| XM_011539188.2:c.1657del | XP_011537490.1:p.Gln553ArgfsTer28 | |
| XM_011539190.2:c.1468del | XP_011537492.1:p.Gln490ArgfsTer28 | |
| XM_011539191.2:c.1327del | XP_011537493.1:p.Gln443ArgfsTer28 | |
| XM_017015606.1:c.1657del | XP_016871095.1:p.Gln553ArgfsTer28 | |
| XM_017015607.1:c.817del | XP_016871096.1:p.Gln273ArgfsTer28 | |
| XM_024447785.1:c.1516del | XP_024303553.1:p.Gln506ArgfsTer28 | |
| XM_024447786.1:c.1279del | XP_024303554.1:p.Gln427ArgfsTer28 | |
| NM_001080114.2:c.1279del | NP_001073583.1:p.Gln427ArgfsTer28 | |
| NM_001171610.2:c.1624del | NP_001165081.1:p.Gln542ArgfsTer28 | |
| NM_001368064.1:c.1420del | NP_001354993.1:p.Gln474ArgfsTer28 | |
| NM_001368065.1:c.1420del | NP_001354994.1:p.Gln474ArgfsTer28 | |
| NM_001368066.1:c.1468del | NP_001354995.1:p.Gln490ArgfsTer28 | |
| NM_007078.3:c.1609del MANE Select | NP_009009.1:p.Gln537ArgfsTer28 |