Linked Data
gnomAD v3:
16-9764199-G-GGTCGCCGTATCATTAAAAAATT
gnomAD v4:
16-9764199-G-GGTCGCCGTATCATTAAAAAATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764199_9764200insGTCGCCGTATCATTAAAAAATT , CM000678.2:g.9764199_9764200insGTCGCCGTATCATTAAAAAATT | GRCh38 |
| NC_000016.9:g.9858056_9858057insGTCGCCGTATCATTAAAAAATT , CM000678.1:g.9858056_9858057insGTCGCCGTATCATTAAAAAATT | GRCh37 |
| NC_000016.8:g.9765557_9765558insGTCGCCGTATCATTAAAAAATT | NCBI36 |
| NG_011812.1:g.423555_423556insAATTTTTTAATGATACGGCGAC | |
| NG_011812.2:g.423555_423556insAATTTTTTAATGATACGGCGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.3344_3345insAATTTTTTAATGATACGGCGAC MANE Select | ENSP00000332549.3:p.Asp1115GlufsTer4 | |
| ENST00000535259.6:c.2873_2874insAATTTTTTAATGATACGGCGAC | ENSP00000441572.3:p.Asp958GlufsTer4 | |
| ENST00000636273.2:n.2937_2938insAATTTTTTAATGATACGGCGAC | ||
| ENST00000674742.1:c.2873_2874insAATTTTTTAATGATACGGCGAC | ENSP00000502200.1:p.Asp958GlufsTer4 | |
| ENST00000675398.1:c.*714_*715insAATTTTTTAATGATACGGCGAC | ENSP00000502752.1:n.*714_*715insAATTTTTTAATGATACGGCGAC | |
| ENST00000330684.3:c.3344_3345insAATTTTTTAATGATACGGCGAC | ENSP00000332549.3:p.Asp1115GlufsTer4 | |
| ENST00000396573.6:c.3344_3345insAATTTTTTAATGATACGGCGAC | ENSP00000379818.2:p.Asp1115GlufsTer4 | |
| ENST00000396575.6:c.2933_2934insAATTTTTTAATGATACGGCGAC | ENSP00000379820.3:p.Asp978GlufsTer4 | |
| ENST00000461292.3:n.2983_2984insAATTTTTTAATGATACGGCGAC | ||
| ENST00000535259.5:c.2933_2934insAATTTTTTAATGATACGGCGAC | ENSP00000441572.2:p.Asp978GlufsTer4 | |
| ENST00000562109.5:c.3344_3345insAATTTTTTAATGATACGGCGAC | ENSP00000454998.1:p.Asp1115GlufsTer4 | |
| NM_000833.4:c.3344_3345insAATTTTTTAATGATACGGCGAC | NP_000824.1:p.Asp1115GlufsTer4 | |
| NM_001134407.2:c.3344_3345insAATTTTTTAATGATACGGCGAC | NP_001127879.1:p.Asp1115GlufsTer4 | |
| NM_001134408.2:c.3344_3345insAATTTTTTAATGATACGGCGAC | NP_001127880.1:p.Asp1115GlufsTer4 | |
| XM_011522456.1:c.3185_3186insAATTTTTTAATGATACGGCGAC | XP_011520758.1:p.Asp1062GlufsTer4 | |
| XM_011522457.1:c.3086_3087insAATTTTTTAATGATACGGCGAC | XP_011520759.1:p.Asp1029GlufsTer4 | |
| XM_011522458.1:c.2873_2874insAATTTTTTAATGATACGGCGAC | XP_011520760.1:p.Asp958GlufsTer4 | |
| XM_011522459.1:c.2873_2874insAATTTTTTAATGATACGGCGAC | XP_011520761.1:p.Asp958GlufsTer4 | |
| XM_011522460.1:c.2873_2874insAATTTTTTAATGATACGGCGAC | XP_011520762.1:p.Asp958GlufsTer4 | |
| XM_011522461.1:c.3344_3345insAATTTTTTAATGATACGGCGAC | XP_011520763.1:p.Asp1115GlufsTer4 | |
| XM_011522458.3:c.2873_2874insAATTTTTTAATGATACGGCGAC | XP_011520760.1:p.Asp958GlufsTer4 | |
| XM_011522461.3:c.3344_3345insAATTTTTTAATGATACGGCGAC | XP_011520763.1:p.Asp1115GlufsTer4 | |
| XM_017023172.1:c.3500_3501insAATTTTTTAATGATACGGCGAC | XP_016878661.1:p.Asp1167GlufsTer4 | |
| XM_017023173.1:c.3500_3501insAATTTTTTAATGATACGGCGAC | XP_016878662.1:p.Asp1167GlufsTer4 | |
| NM_001134407.3:c.3344_3345insAATTTTTTAATGATACGGCGAC MANE Select | NP_001127879.1:p.Asp1115GlufsTer4 | |
| NM_000833.5:c.3344_3345insAATTTTTTAATGATACGGCGAC | NP_000824.1:p.Asp1115GlufsTer4 |