Linked Data
gnomAD v4:
6-1611807-G-GGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1611810_1611812dup , CM000668.2:g.1611810_1611812dup | GRCh38 |
| NC_000006.11:g.1612045_1612047dup , CM000668.1:g.1612045_1612047dup | GRCh37 |
| NC_000006.10:g.1557044_1557046dup | NCBI36 |
| NG_009368.1:g.6365_6367dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.1365_1367dup MANE Select | ENSP00000493906.1:p.Gly456_Gln457insGly | |
| ENST00000380874.3:c.1365_1367dup | ENSP00000370256.2:p.Gly456_Gln457insGly | |
| NM_001453.2:c.1365_1367dup | NP_001444.2:p.Gly456_Gln457insGly | |
| NM_001453.3:c.1365_1367dup MANE Select | NP_001444.2:p.Gly456_Gln457insGly |