ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32316482_32316483del , CM000675.2:g.32316482_32316483del | GRCh38 |
| NC_000013.10:g.32890619_32890620del , CM000675.1:g.32890619_32890620del | GRCh37 |
| NC_000013.9:g.31788619_31788620del | NCBI36 |
| NG_012772.3:g.6003_6004del , LRG_293:g.6003_6004del | |
| NG_017006.1:g.476_477del | |
| NG_017006.2:g.3885_3886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.22_23del | ENSP00000434898.2:p.Arg8AlafsTer5 | |
| ENST00000528762.2:c.22_23del | ENSP00000433168.2:p.Arg8AlafsTer5 | |
| ENST00000530893.7:c.-344_-343del | ENSP00000499438.2:n.-344_-343del | |
| ENST00000665585.2:c.22_23del | ENSP00000499570.2:p.Arg8AlafsTer5 | |
| ENST00000666593.2:c.22_23del | ENSP00000499256.2:p.Arg8AlafsTer5 | |
| ENST00000700202.2:c.22_23del | ENSP00000514856.2:p.Arg8AlafsTer5 | |
| ENST00000700199.1:n.146_147del | ||
| ENST00000700200.1:n.146_147del | ||
| ENST00000700201.1:c.22_23del | ENSP00000514855.1:p.Arg8AlafsTer5 | |
| ENST00000380152.8:c.22_23del MANE Select | ENSP00000369497.3:p.Arg8AlafsTer5 | |
| ENST00000544455.6:c.22_23del | ENSP00000439902.1:p.Arg8AlafsTer5 | |
| ENST00000614259.2:c.22_23del | ENSP00000506251.1:p.Arg8AlafsTer5 | |
| ENST00000680887.1:c.22_23del | ENSP00000505508.1:p.Arg8AlafsTer5 | |
| ENST00000380152.7:c.22_23del | ENSP00000369497.3:p.Arg8AlafsTer5 | |
| ENST00000530893.6:n.224_225del | ||
| ENST00000544455.5:c.22_23del | ENSP00000439902.1:p.Arg8AlafsTer5 | |
| ENST00000614259.1:n.22_23del | ||
| NM_000059.3:c.22_23del , LRG_293t1:c.22_23del | NP_000050.2:p.Arg8AlafsTer5 | |
| XM_011535203.1:c.22_23del | XP_011533505.1:p.Arg8AlafsTer5 | |
| XM_011535204.1:c.22_23del | XP_011533506.1:p.Arg8AlafsTer5 | |
| XM_011535205.1:c.22_23del | XP_011533507.1:p.Arg8AlafsTer5 | |
| NM_000059.4:c.22_23del MANE Select | NP_000050.3:p.Arg8AlafsTer5 |