Linked Data
ClinVar Variation Id:
1831
dbSNP Id:
rs750962965
ExAC:
3:121527824 GAA / G
gnomAD v2:
3-121527824-GAA-G
gnomAD v3:
3-121808977-GAA-G
gnomAD v4:
3-121808977-GAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121808981_121808982del , CM000665.2:g.121808981_121808982del | GRCh38 |
| NC_000003.11:g.121527828_121527829del , CM000665.1:g.121527828_121527829del | GRCh37 |
| NC_000003.10:g.123010518_123010519del | NCBI36 |
| NG_015887.1:g.31101_31102del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.424_425del MANE Select | ENSP00000311505.6:p.Phe142ProfsTer5 | |
| ENST00000310864.10:c.424_425del | ENSP00000311505.6:p.Phe142ProfsTer5 | |
| ENST00000349820.10:c.424_425del | ENSP00000323756.7:p.Phe142ProfsTer5 | |
| ENST00000393650.7:c.424_425del | ENSP00000377261.3:p.Phe142ProfsTer5 | |
| ENST00000460108.5:c.-129_-128del | ENSP00000419168.1:n.-129_-128del | |
| ENST00000498104.1:c.-65-1536_-65-1535del | ENSP00000417832.1:n.-65-1536_-65-1535del | |
| NM_001023570.2:c.424_425del | NP_001018864.2:p.Phe142ProfsTer5 | |
| NM_001023571.2:c.424_425del | NP_001018865.2:p.Phe142ProfsTer5 | |
| XM_005247911.2:c.424_425del | XP_005247968.1:p.Phe142ProfsTer5 | |
| XM_005247912.1:c.-129_-128del | XP_005247969.1:n.-129_-128del | |
| XM_005247913.1:c.424_425del | XP_005247970.1:p.Phe142ProfsTer5 | |
| XM_011513335.1:c.-65-1536_-65-1535del | XP_011511637.1:n.-65-1536_-65-1535del | |
| XR_924221.1:n.551_552del | ||
| NM_001023570.3:c.424_425del | NP_001018864.2:p.Phe142ProfsTer5 | |
| NM_001023571.3:c.424_425del | NP_001018865.2:p.Phe142ProfsTer5 | |
| NM_001319107.1:c.424_425del | NP_001306036.1:p.Phe142ProfsTer5 | |
| NR_134968.1:n.638_639del | ||
| XM_005247911.4:c.424_425del | XP_005247968.1:p.Phe142ProfsTer5 | |
| XM_005247912.3:c.-129_-128del | XP_005247969.1:n.-129_-128del | |
| XM_011513335.3:c.-65-1536_-65-1535del | XP_011511637.1:n.-65-1536_-65-1535del | |
| XM_017007537.2:c.-65-1536_-65-1535del | XP_016863026.1:n.-65-1536_-65-1535del | |
| XM_017007539.2:c.424_425del | XP_016863028.1:p.Phe142ProfsTer5 | |
| XM_024453833.1:c.-129_-128del | XP_024309601.1:n.-129_-128del | |
| XM_024453834.1:c.-129_-128del | XP_024309602.1:n.-129_-128del | |
| XR_001740376.2:n.552_553del | ||
| XR_001740377.2:n.552_553del | ||
| XR_001740378.2:n.552_553del | ||
| XR_001740379.2:n.552_553del | ||
| XR_001740380.2:n.552_553del | ||
| XR_001740381.2:n.552_553del | ||
| NM_001023570.4:c.424_425del MANE Select | NP_001018864.2:p.Phe142ProfsTer5 | |
| NM_001023571.4:c.424_425del | NP_001018865.2:p.Phe142ProfsTer5 | |
| NM_001319107.2:c.424_425del | NP_001306036.1:p.Phe142ProfsTer5 | |
| NR_134968.2:n.619_620del |