Linked Data
dbSNP Id:
rs1064793275
gnomAD v2:
15-74487657-G-GACACTCTGCCCTCTGCCAA
gnomAD v4:
15-74195316-G-GACACTCTGCCCTCTGCCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74195334_74195335insAACACTCTGCCCTCTGCCA , CM000677.2:g.74195334_74195335insAACACTCTGCCCTCTGCCA | GRCh38 |
| NC_000015.9:g.74487675_74487676insAACACTCTGCCCTCTGCCA , CM000677.1:g.74487675_74487676insAACACTCTGCCCTCTGCCA | GRCh37 |
| NC_000015.8:g.72274728_72274729insAACACTCTGCCCTCTGCCA | NCBI36 |
| NG_009207.1:g.18714_18715insTTGGCAGAGGGCAGAGTGT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395105.9:c.582_583insTTGGCAGAGGGCAGAGTGT MANE Select | ENSP00000378537.4:p.Pro195LeufsTer? | |
| ENST00000323940.9:c.582_583insTTGGCAGAGGGCAGAGTGT | ENSP00000326085.5:p.Pro195LeufsTer? | |
| ENST00000395105.8:c.582_583insTTGGCAGAGGGCAGAGTGT | ENSP00000378537.4:p.Pro195LeufsTer? | |
| ENST00000416286.7:c.558_559insTTGGCAGAGGGCAGAGTGT | ENSP00000400403.3:p.Pro187LeufsTer? | |
| ENST00000423167.6:c.555_556insTTGGCAGAGGGCAGAGTGT | ENSP00000413012.2:p.Pro186LeufsTer? | |
| ENST00000432245.6:c.*285_*286insTTGGCAGAGGGCAGAGTGT | ENSP00000407176.2:n.*285_*286insTTGGCAGAG... | |
| ENST00000449139.6:c.582_583insTTGGCAGAGGGCAGAGTGT | ENSP00000410221.2:p.Pro195LeufsTer? | |
| ENST00000535552.5:c.693_694insTTGGCAGAGGGCAGAGTGT | ENSP00000440238.1:p.Pro232LeufsTer? | |
| ENST00000545137.5:n.306+335_306+336insTTGGCAGAGGGCAGAGTGT | ||
| ENST00000563965.5:c.699_700insTTGGCAGAGGGCAGAGTGT | ENSP00000456609.1:p.Pro234LeufsTer? | |
| ENST00000569936.5:c.582_583insTTGGCAGAGGGCAGAGTGT | ENSP00000461799.1:p.Pro195LeufsTer? | |
| ENST00000574278.5:c.627_628insTTGGCAGAGGGCAGAGTGT | ENSP00000458827.1:p.Pro210LeufsTer? | |
| ENST00000574439.5:n.854_855insTTGGCAGAGGGCAGAGTGT | ||
| ENST00000616000.4:c.582_583insTTGGCAGAGGGCAGAGTGT | ENSP00000479112.1:p.Pro195LeufsTer? | |
| NM_001142617.1:c.582_583insTTGGCAGAGGGCAGAGTGT | NP_001136089.1:p.Pro195LeufsTer? | |
| NM_001142618.1:c.582_583insTTGGCAGAGGGCAGAGTGT | NP_001136090.1:p.Pro195LeufsTer? | |
| NM_001142619.1:c.555_556insTTGGCAGAGGGCAGAGTGT | NP_001136091.1:p.Pro186LeufsTer? | |
| NM_001142620.1:c.*285_*286insTTGGCAGAGGGCAGAGTGT | NP_001136092.1:n.*285_*286insTTGGCAGAGGGC... | |
| NM_001199040.1:c.693_694insTTGGCAGAGGGCAGAGTGT | NP_001185969.1:p.Pro232LeufsTer? | |
| NM_001199041.1:c.627_628insTTGGCAGAGGGCAGAGTGT | NP_001185970.1:p.Pro210LeufsTer? | |
| NM_001199042.1:c.699_700insTTGGCAGAGGGCAGAGTGT | NP_001185971.1:p.Pro234LeufsTer? | |
| NM_022369.3:c.582_583insTTGGCAGAGGGCAGAGTGT | NP_071764.3:p.Pro195LeufsTer? | |
| XM_011521883.1:c.582_583insTTGGCAGAGGGCAGAGTGT | XP_011520185.1:p.Pro195LeufsTer? | |
| XM_011521884.1:c.393_394insTTGGCAGAGGGCAGAGTGT | XP_011520186.1:p.Pro132LeufsTer? | |
| XM_011521885.1:c.699_700insTTGGCAGAGGGCAGAGTGT | XP_011520187.1:p.Pro234LeufsTer? | |
| XR_931877.1:n.705_706insTTGGCAGAGGGCAGAGTGT | ||
| XM_011521885.2:c.699_700insTTGGCAGAGGGCAGAGTGT | XP_011520187.1:p.Pro234LeufsTer? | |
| XM_017022478.1:c.630_631insTTGGCAGAGGGCAGAGTGT | XP_016877967.1:p.Pro211LeufsTer? | |
| XM_017022479.1:c.582_583insTTGGCAGAGGGCAGAGTGT | XP_016877968.1:p.Pro195LeufsTer? | |
| XM_017022480.1:c.393_394insTTGGCAGAGGGCAGAGTGT | XP_016877969.1:p.Pro132LeufsTer? | |
| XR_931877.2:n.705_706insTTGGCAGAGGGCAGAGTGT | ||
| NM_022369.4:c.582_583insTTGGCAGAGGGCAGAGTGT MANE Select | NP_071764.3:p.Pro195LeufsTer? | |
| NM_001142617.2:c.582_583insTTGGCAGAGGGCAGAGTGT | NP_001136089.1:p.Pro195LeufsTer? | |
| NM_001142619.2:c.555_556insTTGGCAGAGGGCAGAGTGT | NP_001136091.1:p.Pro186LeufsTer? | |
| NM_001199042.2:c.699_700insTTGGCAGAGGGCAGAGTGT | NP_001185971.1:p.Pro234LeufsTer? | |
| NM_001142618.2:c.582_583insTTGGCAGAGGGCAGAGTGT | NP_001136090.1:p.Pro195LeufsTer? | |
| NM_001142620.2:c.*285_*286insTTGGCAGAGGGCAGAGTGT | NP_001136092.1:n.*285_*286insTTGGCAGAGGGC... | |
| NM_001199040.2:c.693_694insTTGGCAGAGGGCAGAGTGT | NP_001185969.1:p.Pro232LeufsTer? | |
| NM_001199041.2:c.627_628insTTGGCAGAGGGCAGAGTGT | NP_001185970.1:p.Pro210LeufsTer? |