Linked Data
ClinVar Variation Id:
1454776
ClinVar RCV Id:
RCV001942043
dbSNP Id:
rs1564532377
gnomAD v2:
10-73767547-GC-G
gnomAD v4:
10-72007789-GC-G
MyVariant Identifiers:
chr10:g.73767548del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72007794del , CM000672.2:g.72007794del | GRCh38 |
| NC_000010.10:g.73767552del , CM000672.1:g.73767552del | GRCh37 |
| NC_000010.9:g.73437558del | NCBI36 |
| NG_012635.1:g.48433del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.763del MANE Select | ENSP00000362207.4:p.Leu255SerfsTer3 | |
| ENST00000373115.4:c.763del | ENSP00000362207.4:p.Leu255SerfsTer3 | |
| NM_004273.4:c.763del | NP_004264.2:p.Leu255SerfsTer3 | |
| XM_006718075.2:c.763del | XP_006718138.1:p.Leu255SerfsTer3 | |
| XM_011540369.1:c.763del | XP_011538671.1:p.Leu255SerfsTer3 | |
| XM_006718075.4:c.763del | XP_006718138.1:p.Leu255SerfsTer3 | |
| XM_011540369.2:c.763del | XP_011538671.1:p.Leu255SerfsTer3 | |
| NM_004273.5:c.763del MANE Select | NP_004264.2:p.Leu255SerfsTer3 |