Linked Data
dbSNP Id:
rs1711012858
gnomAD v3:
3-138946036-AGCTGCTGCAGCC-A
gnomAD v4:
3-138946036-AGCTGCTGCAGCC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946042_138946053del , CM000665.2:g.138946042_138946053del | GRCh38 |
| NC_000003.11:g.138664884_138664895del , CM000665.1:g.138664884_138664895del | GRCh37 |
| NC_000003.10:g.140147574_140147585del | NCBI36 |
| NG_012454.1:g.6093_6104del | |
| NG_029796.1:g.3809_3820del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.675_686del MANE Select | ENSP00000497217.1:p.Ala226_Ala229del | |
| ENST00000330315.3:c.675_686del | ENSP00000333188.3:p.Ala226_Ala229del | |
| NM_023067.3:c.675_686del | NP_075555.1:p.Ala226_Ala229del | |
| NM_023067.4:c.675_686del MANE Select | NP_075555.1:p.Ala226_Ala229del |