Linked Data
gnomAD v3:
13-110169929-G-GAGGGAGGGGGGAAGGGAGGA
gnomAD v4:
13-110169929-G-GAGGGAGGGGGGAAGGGAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169937_110169938insGGGAAGGGAGGAAGGGAGGG , CM000675.2:g.110169937_110169938insGGGAAGGGAGGAAGGGAGGG | GRCh38 |
| NC_000013.10:g.110822284_110822285insGGGAAGGGAGGAAGGGAGGG , CM000675.1:g.110822284_110822285insGGGAAGGGAGGAAGGGAGGG | GRCh37 |
| NC_000013.9:g.109620285_109620286insGGGAAGGGAGGAAGGGAGGG | NCBI36 |
| NG_011544.2:g.142220_142221insTCCTCCCTTCCCCCCTCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT MANE Select | ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT | |
| ENST00000375820.8:c.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT | ENSP00000364979.4:n.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT | |
| NM_001845.5:c.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT | NP_001836.3:n.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT | |
| XM_011521048.1:c.3551-168_3551-167insTCCTCCCTTCCCCCCTCCCT | XP_011519350.1:n.3551-168_3551-167insTCCTCCCTTCCCCCCTCCCT | |
| XM_011521048.2:c.3551-168_3551-167insTCCTCCCTTCCCCCCTCCCT | XP_011519350.1:n.3551-168_3551-167insTCCTCCCTTCCCCCCTCCCT | |
| NM_001845.6:c.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT MANE Select | NP_001836.3:n.3743-168_3743-167insTCCTCCCTTCCCCCCTCCCT |