Linked Data
dbSNP Id:
rs1699611322
gnomAD v3:
3-45476497-GACTGCCTAT-G
gnomAD v4:
3-45476497-GACTGCCTAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45476500_45476508del , CM000665.2:g.45476500_45476508del | GRCh38 |
| NC_000003.11:g.45517992_45518000del , CM000665.1:g.45517992_45518000del | GRCh37 |
| NC_000003.10:g.45492996_45493004del | NCBI36 |
| NG_033907.1:g.92918_92926del | |
| NG_033907.2:g.92918_92926del | |
| NG_033907.3:g.92937_92945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265537.8:c.891_899del | ENSP00000265537.4:p.Ala298_Thr300del | |
| ENST00000642274.1:c.891_899del | ENSP00000495707.1:p.Ala298_Thr300del | |
| ENST00000645846.2:c.891_899del MANE Select | ENSP00000495093.1:p.Ala298_Thr300del | |
| ENST00000650792.2:c.891_899del | ENSP00000498867.1:p.Ala298_Thr300del | |
| ENST00000651549.1:c.891_899del | ENSP00000499002.1:p.Ala298_Thr300del | |
| ENST00000652135.1:c.*759_*767del | ENSP00000499104.1:n.*759_*767del | |
| ENST00000265537.7:c.891_899del | ENSP00000265537.3:p.Ala298_Thr300del | |
| ENST00000414984.5:c.762_770del | ENSP00000412893.1:p.Ala255_Thr257del | |
| ENST00000415258.5:c.891_899del | ENSP00000408576.1:p.Ala298_Thr300del | |
| NM_015340.3:c.891_899del | NP_056155.1:p.Ala298_Thr300del | |
| XM_005265006.1:c.891_899del | XP_005265063.1:p.Ala298_Thr300del | |
| XM_011533554.1:c.891_899del | XP_011531856.1:p.Ala298_Thr300del | |
| XM_005265006.2:c.891_899del | XP_005265063.1:p.Ala298_Thr300del | |
| XM_011533554.2:c.891_899del | XP_011531856.1:p.Ala298_Thr300del | |
| XM_017006042.1:c.891_899del | XP_016861531.1:p.Ala298_Thr300del | |
| NM_015340.4:c.891_899del MANE Select | NP_056155.1:p.Ala298_Thr300del | |
| NM_001368263.1:c.891_899del | NP_001355192.1:p.Ala298_Thr300del |