Linked Data
gnomAD v3:
13-110169929-G-GAGGGAGGGAGGCAGGGAGGA
gnomAD v4:
13-110169929-G-GAGGGAGGGAGGCAGGGAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169940_110169941insCAGGGAGGAAGGGAGGGAGG , CM000675.2:g.110169940_110169941insCAGGGAGGAAGGGAGGGAGG | GRCh38 |
| NC_000013.10:g.110822287_110822288insCAGGGAGGAAGGGAGGGAGG , CM000675.1:g.110822287_110822288insCAGGGAGGAAGGGAGGGAGG | GRCh37 |
| NC_000013.9:g.109620288_109620289insCAGGGAGGAAGGGAGGGAGG | NCBI36 |
| NG_011544.2:g.142220_142221insTCCTCCCTGCCTCCCTCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT MANE Select | ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT | |
| ENST00000375820.8:c.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT | ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT | |
| NM_001845.5:c.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT | NP_001836.3:n.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT | |
| XM_011521048.1:c.3551-168_3551-167insTCCTCCCTGCCTCCCTCCCT | XP_011519350.1:n.3551-168_3551-167insTCCTCCCTGCCTCCCTCCCT | |
| XM_011521048.2:c.3551-168_3551-167insTCCTCCCTGCCTCCCTCCCT | XP_011519350.1:n.3551-168_3551-167insTCCTCCCTGCCTCCCTCCCT | |
| NM_001845.6:c.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT MANE Select | NP_001836.3:n.3743-168_3743-167insTCCTCCCTGCCTCCCTCCCT |