Linked Data
ClinVar Variation Id:
189044
dbSNP Id:
rs786204648
ExAC:
9:133342139 TTC / T
gnomAD v2:
9-133342139-TTC-T
gnomAD v4:
9-130466752-TTC-T
MyVariant Identifiers:
chr9:g.133342141_133342142del (hg19)
chr9:g.133342140_133342141del (hg19)
chr9:g.130466754_130466755del (hg38)
chr9:g.130466753_130466754del (hg38)
PubMed:
PMID:19006241
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130466754_130466755del , CM000671.2:g.130466754_130466755del | GRCh38 |
| NC_000009.11:g.133342141_133342142del , CM000671.1:g.133342141_133342142del | GRCh37 |
| NC_000009.10:g.132331962_132331963del | NCBI36 |
| NG_011542.1:g.27048_27049del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000352480.10:c.450_451del MANE Select | ENSP00000253004.6:p.Phe150LeufsTer9 | |
| ENST00000352480.9:c.450_451del | ENSP00000253004.6:p.Phe150LeufsTer9 | |
| ENST00000372393.7:c.450_451del | ENSP00000361469.2:p.Phe150LeufsTer9 | |
| ENST00000372394.5:c.450_451del | ENSP00000361471.1:p.Phe150LeufsTer9 | |
| ENST00000422569.5:c.450_451del | ENSP00000394212.1:p.Phe150LeufsTer9 | |
| ENST00000443588.1:c.393_394del | ENSP00000397785.1:p.Phe131LeufsTer9 | |
| ENST00000467695.5:n.159_160del | ||
| ENST00000493984.6:n.281_282del | ||
| NM_000050.4:c.450_451del | NP_000041.2:p.Phe150LeufsTer9 | |
| NM_054012.3:c.450_451del | NP_446464.1:p.Phe150LeufsTer9 | |
| XM_005272200.2:c.450_451del | XP_005272257.1:p.Phe150LeufsTer9 | |
| XM_011518705.1:c.564_565del | XP_011517007.1:p.Phe188LeufsTer9 | |
| XM_005272200.3:c.450_451del | XP_005272257.1:p.Phe150LeufsTer9 | |
| XM_011518705.2:c.564_565del | XP_011517007.1:p.Phe188LeufsTer9 | |
| XM_017014729.1:c.546_547del | XP_016870218.1:p.Phe182LeufsTer9 | |
| NM_054012.4:c.450_451del MANE Select | NP_446464.1:p.Phe150LeufsTer9 |