MaveDb:
Score
0.0379718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957883_87957884delinsGT , CM000672.2:g.87957883_87957884delinsGT | GRCh38 |
| NC_000010.10:g.89717640_89717641delinsGT , CM000672.1:g.89717640_89717641delinsGT | GRCh37 |
| NC_000010.9:g.89707620_89707621delinsGT | NCBI36 |
| NG_007466.2:g.99445_99446delinsGT , LRG_311:g.99445_99446delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.665_666delinsGT | ENSP00000514759.2:p.Val222Gly | |
| ENST00000710265.1:c.665_666delinsGT | ENSP00000518161.1:p.Val222Gly | |
| ENST00000472832.3:c.665_666delinsGT | ENSP00000483066.2:p.Val222Gly | |
| ENST00000688158.2:n.1400_1401delinsGT | ||
| ENST00000688922.2:c.*495_*496delinsGT | ENSP00000508742.2:n.*495_*496delinsGT | |
| ENST00000700021.1:c.620_621delinsGT | ENSP00000514757.1:p.Val207Gly | |
| ENST00000700022.1:c.*4_*5delinsGT | ENSP00000514758.1:n.*4_*5delinsGT | |
| ENST00000700023.1:n.1823_1824delinsGT | ||
| ENST00000700024.1:n.2057_2058delinsGT | ||
| ENST00000700025.1:n.1434_1435delinsGT | ||
| ENST00000700026.1:n.302_303delinsGT | ||
| ENST00000700029.1:c.499_500delinsGT | ||
| ENST00000706954.1:c.665_666delinsGT | ENSP00000516674.1:p.Val222Gly | |
| ENST00000706955.1:c.*700_*701delinsGT | ENSP00000516675.1:n.*700_*701delinsGT | |
| ENST00000686459.1:c.*251_*252delinsGT | ENSP00000508909.1:n.*251_*252delinsGT | |
| ENST00000688158.1:c.*776_*777delinsGT | ENSP00000509254.1:n.*776_*777delinsGT | |
| ENST00000688308.1:c.665_666delinsGT | ENSP00000508752.1:p.Val222Gly | |
| ENST00000688922.1:c.586_587delinsGT | ||
| ENST00000693560.1:c.1184_1185delinsGT | ENSP00000509861.1:p.Val395Gly | |
| ENST00000371953.8:c.665_666delinsGT MANE Select | ENSP00000361021.3:p.Val222Gly | |
| ENST00000371953.7:c.665_666delinsGT | ENSP00000361021.3:p.Val222Gly | |
| ENST00000472832.2:c.92_93delinsGT | ENSP00000483066.1:p.Val31Gly | |
| NM_000314.5:c.665_666delinsGT | NP_000305.3:p.Val222Gly | |
| NM_000314.6:c.665_666delinsGT | NP_000305.3:p.Val222Gly | |
| NM_001304717.2:c.1184_1185delinsGT | NP_001291646.2:p.Val395Gly | |
| NM_001304718.1:c.74_75delinsGT | NP_001291647.1:p.Val25Gly | |
| XM_006717926.2:c.620_621delinsGT | XP_006717989.1:p.Val207Gly | |
| XM_011539981.1:c.665_666delinsGT | XP_011538283.1:p.Val222Gly | |
| XM_011539982.1:c.569_570delinsGT | XP_011538284.1:p.Val190Gly | |
| XR_945791.1:n.1235_1236delinsGT | ||
| NM_000314.7:c.665_666delinsGT | NP_000305.3:p.Val222Gly | |
| NM_001304717.5:c.1184_1185delinsGT | NP_001291646.4:p.Val395Gly | |
| NM_001304718.2:c.74_75delinsGT | NP_001291647.1:p.Val25Gly | |
| NM_000314.8:c.665_666delinsGT MANE Select | NP_000305.3:p.Val222Gly |