Linked Data
dbSNP Id:
rs769310905
gnomAD v2:
12-102155544-G-GGAAATACTTTTTTTTCTCCCATGGCA
gnomAD v4:
12-101761766-G-GGAAATACTTTTTTTTCTCCCATGGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGCA , CM000674.2:g.101761766_101761767insGAAATACTTTTTTTTCTCCCATGGCA | GRCh38 |
| NC_000012.11:g.102155544_102155545insGAAATACTTTTTTTTCTCCCATGGCA , CM000674.1:g.102155544_102155545insGAAATACTTTTTTTTCTCCCATGGCA | GRCh37 |
| NC_000012.10:g.100679675_100679676insGAAATACTTTTTTTTCTCCCATGGCA | NCBI36 |
| NG_021243.1:g.74101_74102insTGCCATGGGAGAAAAAAAAGTATTTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC MANE Select | ENSP00000299314.7:n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTT... | |
| ENST00000299314.11:c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | ENSP00000299314.7:n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTT... | |
| NM_024312.4:c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | NP_077288.2:n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| XM_006719593.2:c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | XP_006719656.1:n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| XM_011538731.1:c.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC | XP_011537033.1:n.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| XM_006719593.3:c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | XP_006719656.1:n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| XM_011538731.2:c.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC | XP_011537033.1:n.2635-4_2635-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| XM_017019961.1:c.2500-4_2500-3insTGCCATGGGAGAAAAAAAAGTATTTC | XP_016875450.1:n.2500-4_2500-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| XM_017019962.2:c.1489-4_1489-3insTGCCATGGGAGAAAAAAAAGTATTTC | XP_016875451.1:n.1489-4_1489-3insTGCCATGGGAGAAAAAAAAGTATTTC | |
| NM_024312.5:c.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC MANE Select | NP_077288.2:n.2716-4_2716-3insTGCCATGGGAGAAAAAAAAGTATTTC |