Linked Data
ClinVar Variation Id:
369930
ClinVar RCV Id:
RCV000408862
dbSNP Id:
rs797044528
gnomAD v2:
3-138664760-CG-C
gnomAD v3:
3-138945918-CG-C
gnomAD v4:
3-138945918-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945924del , CM000665.2:g.138945924del | GRCh38 |
| NC_000003.11:g.138664766del , CM000665.1:g.138664766del | GRCh37 |
| NC_000003.10:g.140147456del | NCBI36 |
| NG_012454.1:g.6222del | |
| NG_029796.1:g.3691del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.804del MANE Select | ENSP00000497217.1:p.Gly269AlafsTer2 | |
| ENST00000330315.3:c.804del | ENSP00000333188.3:p.Gly269AlafsTer2 | |
| NM_023067.3:c.804del | NP_075555.1:p.Gly269AlafsTer2 | |
| NM_023067.4:c.804del MANE Select | NP_075555.1:p.Gly269AlafsTer2 |