Linked Data
gnomAD v4:
1-197039135-T-TCTCGGTGGTCGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197039135_197039136insCTCGGTGGTCGCCG , CM000663.2:g.197039135_197039136insCTCGGTGGTCGCCG | GRCh38 |
| NC_000001.10:g.197008265_197008266insCTCGGTGGTCGCCG , CM000663.1:g.197008265_197008266insCTCGGTGGTCGCCG | GRCh37 |
| NC_000001.9:g.195274888_195274889insCTCGGTGGTCGCCG | NCBI36 |
| NG_012065.1:g.33132_33133insCGGCGACCACCGAG , LRG_550:g.33132_33133insCGGCGACCACCGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367412.2:c.*242_*243insCGGCGACCACCGAG MANE Select | ENSP00000356382.2:n.*242_*243insCGGCGACCACCGAG | |
| ENST00000649282.1:c.983_984insCGGCGACCACCGAG | ENSP00000497116.1:n.983_984insCGGCGACCACCGAG | |
| XM_011509283.2:c.*1163_*1164insCGGCGACCACCGAG | XP_011507585.1:n.*1163_*1164insCGGCGACCACCGAG | |
| XM_011509284.2:c.*1163_*1164insCGGCGACCACCGAG | XP_011507586.1:n.*1163_*1164insCGGCGACCACCGAG | |
| XM_011509286.2:c.*1163_*1164insCGGCGACCACCGAG | XP_011507588.1:n.*1163_*1164insCGGCGACCACCGAG | |
| NM_001994.3:c.*242_*243insCGGCGACCACCGAG MANE Select | NP_001985.2:n.*242_*243insCGGCGACCACCGAG |