Linked Data
gnomAD v4:
3-138945700-CGGCGCACTGGTGGGCGCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945706_138945723del , CM000665.2:g.138945706_138945723del | GRCh38 |
| NC_000003.11:g.138664548_138664565del , CM000665.1:g.138664548_138664565del | GRCh37 |
| NC_000003.10:g.140147238_140147255del | NCBI36 |
| NG_012454.1:g.6423_6440del | |
| NG_029796.1:g.3473_3490del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.1005_1022del MANE Select | ENSP00000497217.1:p.Ala336_Pro341del | |
| ENST00000330315.3:c.1005_1022del | ENSP00000333188.3:p.Ala336_Pro341del | |
| NM_023067.3:c.1005_1022del | NP_075555.1:p.Ala336_Pro341del | |
| NM_023067.4:c.1005_1022del MANE Select | NP_075555.1:p.Ala336_Pro341del |