Linked Data
gnomAD v4:
12-53973800-T-TGGGGGGGGGGGGGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGG , CM000674.2:g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGG | GRCh38 |
| NC_000012.11:g.54367584_54367585insGGGGGGGGGGGGGGGGGGGGGGG , CM000674.1:g.54367584_54367585insGGGGGGGGGGGGGGGGGGGGGGG | GRCh37 |
| NC_000012.10:g.52653851_52653852insGGGGGGGGGGGGGGGGGGGGGGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243082.4:c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (HOXC11) | ENSP00000243082.4:p.Ser187TrpfsTer? | |
| ENST00000546378.1:c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (HOXC11) MANE Select | ENSP00000446680.1:p.Ser187TrpfsTer? | |
| NM_014212.3:c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (HOXC11) | NP_055027.1:p.Ser187TrpfsTer? | |
| NR_047517.1:n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCC (HOTAIR) | ||
| NM_014212.4:c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (HOXC11) MANE Select | NP_055027.1:p.Ser187TrpfsTer? |