Linked Data
ClinVar Variation Id:
426926
dbSNP Id:
rs1085307855
gnomAD v4:
9-134750543-GC-G
COSMIC:
COSM295320
MyVariant Identifiers:
chr9:g.137642395del (hg19)
chr9:g.137642390del (hg19)
chr9:g.134750549del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134750549del , CM000671.2:g.134750549del | GRCh38 |
| NC_000009.11:g.137642395del , CM000671.1:g.137642395del | GRCh37 |
| NC_000009.10:g.136782216del | NCBI36 |
| NG_008030.1:g.113744del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.1502del | ENSP00000360885.4:p.Pro501LeufsTer? | |
| ENST00000371817.8:c.1502del MANE Select | ENSP00000360882.3:p.Pro501LeufsTer? | |
| ENST00000371817.7:c.1502del | ENSP00000360882.3:p.Pro501LeufsTer? | |
| ENST00000618395.4:c.1502del | ENSP00000481360.1:p.Pro501LeufsTer? | |
| NM_000093.4:c.1502del | NP_000084.3:p.Pro501LeufsTer? | |
| NM_001278074.1:c.1502del | NP_001265003.1:p.Pro501LeufsTer? | |
| XR_929712.1:n.1904del | ||
| XR_929713.1:n.1904del | ||
| XM_017014266.2:c.1502del | XP_016869755.1:p.Pro501LeufsTer? | |
| XR_001746183.1:n.1900del | ||
| NM_000093.5:c.1502del MANE Select | NP_000084.3:p.Pro501LeufsTer? |