Linked Data
gnomAD v4:
6-49447820-A-AGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49447820_49447821insGG , CM000668.2:g.49447820_49447821insGG | GRCh38 |
| NC_000006.11:g.49415533_49415534insGG , CM000668.1:g.49415533_49415534insGG | GRCh37 |
| NC_000006.10:g.49523492_49523493insGG | NCBI36 |
| NG_007100.1:g.20319_20320insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.1445-36_1445-35insCC MANE Select | ENSP00000274813.3:n.1445-36_1445-35insCC | |
| ENST00000274813.3:c.1445-36_1445-35insCC | ENSP00000274813.3:n.1445-36_1445-35insCC | |
| NM_000255.3:c.1445-36_1445-35insCC | NP_000246.2:n.1445-36_1445-35insCC | |
| XM_005249143.2:c.1445-36_1445-35insCC | XP_005249200.1:n.1445-36_1445-35insCC | |
| XM_005249143.3:c.1445-36_1445-35insCC | XP_005249200.1:n.1445-36_1445-35insCC | |
| NM_000255.4:c.1445-36_1445-35insCC MANE Select | NP_000246.2:n.1445-36_1445-35insCC |