Linked Data
ClinVar Variation Id:
1458620
ClinVar RCV Id:
RCV001956470
dbSNP Id:
rs2144578905
gnomAD v4:
17-50195961-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195965del , CM000679.2:g.50195965del | GRCh38 |
| NC_000017.10:g.48273326del , CM000679.1:g.48273326del | GRCh37 |
| NC_000017.9:g.45628325del | NCBI36 |
| NG_007400.1:g.10678del , LRG_1:g.10678del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1017del MANE Select | ENSP00000225964.6:p.Ala340LeufsTer? | |
| ENST00000225964.9:c.1017del | ENSP00000225964.5:p.Ala340LeufsTer? | |
| NM_000088.3:c.1017del , LRG_1t1:c.1017del | NP_000079.2:p.Ala340LeufsTer? | |
| XM_005257058.3:c.1017del | XP_005257115.2:p.Ala340LeufsTer? | |
| XM_005257059.3:c.957+352del | XP_005257116.2:n.957+352del | |
| XM_011524341.1:c.957+352del | XP_011522643.1:n.957+352del | |
| XM_005257058.4:c.1017del | XP_005257115.2:p.Ala340LeufsTer? | |
| XM_005257059.4:c.957+352del | XP_005257116.2:n.957+352del | |
| NM_000088.4:c.1017del MANE Select | NP_000079.2:p.Ala340LeufsTer? |