Linked Data
gnomAD v4:
6-49459225-A-ACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459225_49459226insCC , CM000668.2:g.49459225_49459226insCC | GRCh38 |
| NC_000006.11:g.49426938_49426939insCC , CM000668.1:g.49426938_49426939insCC | GRCh37 |
| NC_000006.10:g.49534897_49534898insCC | NCBI36 |
| NG_007100.1:g.8914_8915insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.241_242insGG MANE Select | ENSP00000274813.3:p.Leu81TrpfsTer9 | |
| ENST00000274813.3:c.241_242insGG | ENSP00000274813.3:p.Leu81TrpfsTer9 | |
| NM_000255.3:c.241_242insGG | NP_000246.2:p.Leu81TrpfsTer9 | |
| XM_005249143.2:c.241_242insGG | XP_005249200.1:p.Leu81TrpfsTer9 | |
| XM_005249143.3:c.241_242insGG | XP_005249200.1:p.Leu81TrpfsTer9 | |
| NM_000255.4:c.241_242insGG MANE Select | NP_000246.2:p.Leu81TrpfsTer9 |