Linked Data
ClinVar Variation Id:
47890
dbSNP Id:
rs397517846
ExAC:
1:78401656 TAGA / T
gnomAD v2:
1-78401656-TAGA-T
gnomAD v3:
1-77935971-TAGA-T
gnomAD v4:
1-77935971-TAGA-T
MyVariant Identifiers:
chr1:g.78401663_78401665del (hg19)
chr1:g.78401657_78401659del (hg19)
chr1:g.77935978_77935980del (hg38)
chr1:g.77935972_77935974del (hg38)
PubMed:
PMID:24503780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935978_77935980del , CM000663.2:g.77935978_77935980del | GRCh38 |
| NC_000001.10:g.78401663_78401665del , CM000663.1:g.78401663_78401665del | GRCh37 |
| NC_000001.9:g.78174251_78174253del | NCBI36 |
| NG_016625.1:g.52464_52466del , LRG_442:g.52464_52466del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.1407_1409del MANE Select | ENSP00000333938.7:p.Glu470del | |
| ENST00000330010.12:c.1215_1217del | ENSP00000327363.8:p.Glu406del | |
| ENST00000334785.11:c.1407_1409del | ENSP00000333938.7:p.Glu470del | |
| ENST00000342754.5:c.1106_1108del | ||
| ENST00000480732.2:n.981_983del | ||
| NM_001172309.1:c.1215_1217del | NP_001165780.1:p.Glu406del | |
| NM_144573.3:c.1407_1409del , LRG_442t1:c.1407_1409del | NP_653174.3:p.Glu470del | |
| XM_005271322.2:c.1407_1409del | XP_005271379.1:p.Glu470del | |
| XM_005271323.2:c.1365_1367del | XP_005271380.1:p.Glu456del | |
| XM_005271324.3:c.1215_1217del | XP_005271381.1:p.Glu406del | |
| XM_005271325.2:c.1251+2499_1251+2501del | XP_005271382.1:n.1251+2499_1251+2501del | |
| XM_005271326.2:c.1173_1175del | XP_005271383.1:p.Glu392del | |
| XM_005271327.2:c.990_992del | XP_005271384.1:p.Glu331del | |
| XM_005271322.4:c.1407_1409del | XP_005271379.1:p.Glu470del | |
| XM_005271323.4:c.1365_1367del | XP_005271380.1:p.Glu456del | |
| XM_005271324.5:c.1215_1217del | XP_005271381.1:p.Glu406del | |
| XM_005271325.4:c.1251+2499_1251+2501del | XP_005271382.1:n.1251+2499_1251+2501del | |
| XM_005271326.4:c.1173_1175del | XP_005271383.1:p.Glu392del | |
| XM_005271327.4:c.990_992del | XP_005271384.1:p.Glu331del | |
| NM_001172309.2:c.1215_1217del | NP_001165780.1:p.Glu406del | |
| NM_144573.4:c.1407_1409del MANE Select | NP_653174.3:p.Glu470del |