Linked Data
gnomAD v4:
3-30606902-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30606906del , CM000665.2:g.30606906del | GRCh38 |
| NC_000003.11:g.30648398del , CM000665.1:g.30648398del | GRCh37 |
| NC_000003.10:g.30623402del | NCBI36 |
| NG_007490.1:g.5405del , LRG_779:g.5405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.23del MANE Select | ENSP00000295754.5:p.Gly8AlafsTer29 | |
| ENST00000295754.9:c.23del | ENSP00000295754.5:p.Gly8AlafsTer29 | |
| ENST00000359013.4:c.23del | ENSP00000351905.4:p.Gly8AlafsTer? | |
| NM_001024847.2:c.23del , LRG_779t1:c.23del | NP_001020018.1:p.Gly8AlafsTer? | |
| NM_003242.5:c.23del | NP_003233.4:p.Gly8AlafsTer29 | |
| XM_011534045.1:c.-12+313del | XP_011532347.1:n.-12+313del | |
| XM_011534045.3:c.-12+313del | XP_011532347.1:n.-12+313del | |
| NM_003242.6:c.23del MANE Select | NP_003233.4:p.Gly8AlafsTer29 |