Linked Data
ClinVar Variation Id:
403963
dbSNP Id:
rs745340459
ExAC:
3:121514389 T / TCAAG
gnomAD v2:
3-121514389-T-TCAAG
gnomAD v3:
3-121795542-T-TCAAG
gnomAD v4:
3-121795542-T-TCAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.121795545_121795548dup , CM000665.2:g.121795545_121795548dup | GRCh38 |
| NC_000003.11:g.121514392_121514395dup , CM000665.1:g.121514392_121514395dup | GRCh37 |
| NC_000003.10:g.122997082_122997085dup | NCBI36 |
| NG_015887.1:g.44534_44537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310864.11:c.897_900dup MANE Select | ENSP00000311505.6:p.Ile301LeufsTer? | |
| ENST00000310864.10:c.897_900dup | ENSP00000311505.6:p.Ile301LeufsTer? | |
| ENST00000349820.10:c.588-5331_588-5328dup | ENSP00000323756.7:n.588-5331_588-5328dup | |
| ENST00000393650.7:c.876+1572_876+1575dup | ENSP00000377261.3:n.876+1572_876+1575dup | |
| ENST00000460108.5:c.345_348dup | ENSP00000419168.1:p.Ile117LeufsTer? | |
| NM_001023570.2:c.897_900dup | NP_001018864.2:p.Ile301LeufsTer? | |
| NM_001023571.2:c.588-5331_588-5328dup | NP_001018865.2:n.588-5331_588-5328dup | |
| XM_005247911.2:c.897_900dup | XP_005247968.1:p.Ile301LeufsTer? | |
| XM_005247912.1:c.345_348dup | XP_005247969.1:p.Ile117LeufsTer? | |
| XM_005247913.1:c.897_900dup | XP_005247970.1:p.Ile301LeufsTer? | |
| XM_011513335.1:c.345_348dup | XP_011511637.1:p.Ile117LeufsTer? | |
| XR_924221.1:n.1003+1572_1003+1575dup | ||
| NM_001023570.3:c.897_900dup | NP_001018864.2:p.Ile301LeufsTer? | |
| NM_001023571.3:c.588-5331_588-5328dup | NP_001018865.2:n.588-5331_588-5328dup | |
| NM_001319107.1:c.897_900dup | NP_001306036.1:p.Ile301LeufsTer? | |
| NR_134968.1:n.1090+1572_1090+1575dup | ||
| XM_005247911.4:c.897_900dup | XP_005247968.1:p.Ile301LeufsTer? | |
| XM_005247912.3:c.345_348dup | XP_005247969.1:p.Ile117LeufsTer? | |
| XM_011513335.3:c.345_348dup | XP_011511637.1:p.Ile117LeufsTer? | |
| XM_017007537.2:c.345_348dup | XP_016863026.1:p.Ile117LeufsTer? | |
| XM_017007539.2:c.588-5331_588-5328dup | XP_016863028.1:n.588-5331_588-5328dup | |
| XM_024453833.1:c.345_348dup | XP_024309601.1:p.Ile117LeufsTer? | |
| XM_024453834.1:c.345_348dup | XP_024309602.1:p.Ile117LeufsTer? | |
| XR_001740376.2:n.1025_1028dup | ||
| XR_001740377.2:n.1025_1028dup | ||
| XR_001740378.2:n.1004+1572_1004+1575dup | ||
| XR_001740379.2:n.1004+1572_1004+1575dup | ||
| XR_001740380.2:n.1004+1572_1004+1575dup | ||
| XR_001740381.2:n.1004+1572_1004+1575dup | ||
| NM_001023570.4:c.897_900dup MANE Select | NP_001018864.2:p.Ile301LeufsTer? | |
| NM_001023571.4:c.588-5331_588-5328dup | NP_001018865.2:n.588-5331_588-5328dup | |
| NM_001319107.2:c.897_900dup | NP_001306036.1:p.Ile301LeufsTer? | |
| NR_134968.2:n.1071+1572_1071+1575dup |