Linked Data
gnomAD v4:
12-52651996-A-ACTGAAGCCGCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651997_52651998insTGAAGCCGCTGC , CM000674.2:g.52651997_52651998insTGAAGCCGCTGC | GRCh38 |
| NC_000012.11:g.53045781_53045782insTGAAGCCGCTGC , CM000674.1:g.53045781_53045782insTGAAGCCGCTGC | GRCh37 |
| NC_000012.10:g.51332048_51332049insTGAAGCCGCTGC | NCBI36 |
| NG_008296.1:g.5179_5180insCAGCGGCTTCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.146_147insCAGCGGCTTCAG MANE Select | ENSP00000310861.3:p.Gly49_Gly50insSerGlyPheSer | |
| ENST00000309680.3:c.146_147insCAGCGGCTTCAG | ENSP00000310861.3:p.Gly49_Gly50insSerGlyPheSer | |
| NM_000423.2:c.146_147insCAGCGGCTTCAG | NP_000414.2:p.Gly49_Gly50insSerGlyPheSer | |
| NM_000423.3:c.146_147insCAGCGGCTTCAG MANE Select | NP_000414.2:p.Gly49_Gly50insSerGlyPheSer |