Linked Data
ClinVar Variation Id:
225309
dbSNP Id:
rs572295823
ExAC:
7:80290425 AAC / A
gnomAD v2:
7-80290425-AAC-A
gnomAD v3:
7-80661109-AAC-A
gnomAD v4:
7-80661109-AAC-A
MyVariant Identifiers:
chr7:g.80290429_80290430del (hg19)
chr7:g.80290426_80290427del (hg19)
chr7:g.80661113_80661114del (hg38)
chr7:g.80661110_80661111del (hg38)
PubMed:
PMID:7515716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.80661113_80661114del , CM000669.2:g.80661113_80661114del | GRCh38 |
| NC_000007.13:g.80290429_80290430del , CM000669.1:g.80290429_80290430del | GRCh37 |
| NC_000007.12:g.80128365_80128366del | NCBI36 |
| NG_008192.1:g.63926_63927del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447544.7:c.332_333del MANE Select | ENSP00000415743.2:p.Thr111SerfsTer22 | |
| ENST00000309881.11:c.332_333del | ENSP00000308165.7:p.Thr111SerfsTer22 | |
| ENST00000394788.7:c.332_333del | ENSP00000378268.3:p.Thr111SerfsTer22 | |
| ENST00000413265.5:c.332_333del | ENSP00000407690.1:p.Thr111SerfsTer22 | |
| ENST00000419819.2:c.332_333del | ENSP00000392298.2:p.Thr111SerfsTer22 | |
| ENST00000426978.5:c.332_333del | ENSP00000416388.1:p.Thr111SerfsTer22 | |
| ENST00000432207.5:c.332_333del | ENSP00000411411.1:p.Thr111SerfsTer22 | |
| ENST00000433696.6:c.332_333del | ENSP00000401863.2:p.Thr111SerfsTer22 | |
| ENST00000435819.5:c.332_333del | ENSP00000399421.1:p.Thr111SerfsTer22 | |
| ENST00000438020.5:c.332_333del | ENSP00000410371.1:p.Thr111SerfsTer22 | |
| ENST00000441034.2:c.242-1877_242-1876del | ENSP00000396258.2:n.242-1877_242-1876del | |
| ENST00000447544.6:c.332_333del | ENSP00000415743.2:p.Thr111SerfsTer22 | |
| ENST00000534394.5:c.104_105del | ENSP00000431296.1:p.Thr35SerfsTer22 | |
| ENST00000538969.5:c.332_333del | ENSP00000439543.1:p.Thr111SerfsTer22 | |
| ENST00000544133.5:c.332_333del | ENSP00000441956.1:p.Thr111SerfsTer22 | |
| NM_000072.3:c.332_333del | NP_000063.2:p.Thr111SerfsTer22 | |
| NM_001001547.2:c.332_333del | NP_001001547.1:p.Thr111SerfsTer22 | |
| NM_001001548.2:c.332_333del | NP_001001548.1:p.Thr111SerfsTer22 | |
| NM_001127443.1:c.332_333del | NP_001120915.1:p.Thr111SerfsTer22 | |
| NM_001127444.1:c.332_333del | NP_001120916.1:p.Thr111SerfsTer22 | |
| NM_001289908.1:c.332_333del | NP_001276837.1:p.Thr111SerfsTer22 | |
| NM_001289909.1:c.332_333del | NP_001276838.1:p.Thr111SerfsTer22 | |
| NM_001289911.1:c.104_105del | NP_001276840.1:p.Thr35SerfsTer22 | |
| NR_110501.1:n.511_512del | ||
| XM_005250713.1:c.332_333del | XP_005250770.1:p.Thr111SerfsTer22 | |
| XM_005250714.1:c.332_333del | XP_005250771.1:p.Thr111SerfsTer22 | |
| XM_005250715.3:c.332_333del | XP_005250772.1:p.Thr111SerfsTer22 | |
| XM_011516707.1:c.332_333del | XP_011515009.1:p.Thr111SerfsTer22 | |
| XM_005250715.5:c.332_333del | XP_005250772.1:p.Thr111SerfsTer22 | |
| XM_024447002.1:c.332_333del | XP_024302770.1:p.Thr111SerfsTer22 | |
| XM_024447003.1:c.332_333del | XP_024302771.1:p.Thr111SerfsTer22 | |
| NM_001001547.3:c.332_333del | NP_001001547.1:p.Thr111SerfsTer22 | |
| NM_001127444.2:c.332_333del | NP_001120916.1:p.Thr111SerfsTer22 | |
| NM_001289911.2:c.104_105del | NP_001276840.1:p.Thr35SerfsTer22 | |
| NM_001371074.1:c.332_333del | NP_001358003.1:p.Thr111SerfsTer22 | |
| NM_001371075.1:c.332_333del | NP_001358004.1:p.Thr111SerfsTer22 | |
| NM_001371077.1:c.332_333del | NP_001358006.1:p.Thr111SerfsTer22 | |
| NM_001371078.1:c.332_333del | NP_001358007.1:p.Thr111SerfsTer22 | |
| NM_001371079.1:c.230_231del | NP_001358008.1:p.Thr77SerfsTer22 | |
| NM_001371080.1:c.-134_-133del | NP_001358009.1:n.-134_-133del | |
| NM_001371081.1:c.-151_-150del | NP_001358010.1:n.-151_-150del | |
| NM_001001548.3:c.332_333del MANE Select | NP_001001548.1:p.Thr111SerfsTer22 | |
| NM_001127443.2:c.332_333del | NP_001120915.1:p.Thr111SerfsTer22 |