Linked Data
ClinVar Variation Id:
2949432
ClinVar RCV Id:
RCV003804598
dbSNP Id:
rs1486380359
gnomAD v2:
17-42429083-GATA-G
gnomAD v4:
17-44351715-GATA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351718_44351720del , CM000679.2:g.44351718_44351720del | GRCh38 |
| NC_000017.10:g.42429086_42429088del , CM000679.1:g.42429086_42429088del | GRCh37 |
| NC_000017.9:g.39784612_39784614del | NCBI36 |
| NG_007886.1:g.11596_11598del , LRG_661:g.11596_11598del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1102_1104del MANE Select | ENSP00000053867.2:p.Asn368del | |
| ENST00000639447.1:c.1102_1104del | ENSP00000492014.1:p.Asn368del | |
| ENST00000053867.7:c.1102_1104del | ENSP00000053867.2:p.Asn368del | |
| ENST00000586443.1:c.543_545del | ||
| ENST00000589265.5:c.631_633del | ENSP00000467616.1:p.Asn211del | |
| ENST00000589923.1:n.360_362del | ||
| NM_002087.3:c.1102_1104del | NP_002078.1:p.Asn368del | |
| XM_005257253.1:c.1102_1104del | XP_005257310.1:p.Asn368del | |
| XM_024450730.1:c.1102_1104del | XP_024306498.1:p.Asn368del | |
| NM_002087.4:c.1102_1104del MANE Select | NP_002078.1:p.Asn368del |