Linked Data
dbSNP Id:
rs1450492741
gnomAD v3:
13-110169940-G-GAAGGGAGGAAGGGAGGGAGT
gnomAD v4:
13-110169940-G-GAAGGGAGGAAGGGAGGGAGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169940_110169941insAAGGGAGGAAGGGAGGGAGT , CM000675.2:g.110169940_110169941insAAGGGAGGAAGGGAGGGAGT | GRCh38 |
| NC_000013.10:g.110822287_110822288insAAGGGAGGAAGGGAGGGAGT , CM000675.1:g.110822287_110822288insAAGGGAGGAAGGGAGGGAGT | GRCh37 |
| NC_000013.9:g.109620288_109620289insAAGGGAGGAAGGGAGGGAGT | NCBI36 |
| NG_011544.2:g.142209_142210insACTCCCTCCCTTCCTCCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT MANE Select | ENSP00000364979.4:n.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT | |
| ENST00000375820.8:c.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT | ENSP00000364979.4:n.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT | |
| NM_001845.5:c.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT | NP_001836.3:n.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT | |
| XM_011521048.1:c.3551-179_3551-178insACTCCCTCCCTTCCTCCCTT | XP_011519350.1:n.3551-179_3551-178insACTCCCTCCCTTCCTCCCTT | |
| XM_011521048.2:c.3551-179_3551-178insACTCCCTCCCTTCCTCCCTT | XP_011519350.1:n.3551-179_3551-178insACTCCCTCCCTTCCTCCCTT | |
| NM_001845.6:c.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT MANE Select | NP_001836.3:n.3743-179_3743-178insACTCCCTCCCTTCCTCCCTT |