Linked Data
ClinVar Variation Id:
12986
ClinVar RCV Id:
RCV000013858
dbSNP Id:
rs118192169
PubMed:
PMID:12566385
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580445_38580465del , CM000681.2:g.38580445_38580465del | GRCh38 |
| NC_000019.9:g.39071085_39071105del , CM000681.1:g.39071085_39071105del | GRCh37 |
| NC_000019.8:g.43762925_43762945del | NCBI36 |
| NG_008866.1:g.151746_151766del , LRG_766:g.151746_151766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1523_1543del | ||
| ENST00000688602.1:c.2920_2940del | ||
| ENST00000689936.1:c.2892_2912del | ||
| ENST00000359596.8:c.14587_14607del MANE Select | ENSP00000352608.2:p.Phe4863_Asp4869del | |
| ENST00000355481.8:c.14572_14592del | ENSP00000347667.3:p.Phe4858_Asp4864del | |
| ENST00000359596.7:c.14587_14607del | ENSP00000352608.2:p.Phe4863_Asp4869del | |
| ENST00000360985.7:c.14569_14589del | ENSP00000354254.4:p.Phe4857_Asp4863del | |
| NM_000540.2:c.14587_14607del , LRG_766t1:c.14587_14607del | NP_000531.2:p.Phe4863_Asp4869del | |
| NM_001042723.1:c.14572_14592del | NP_001036188.1:p.Phe4858_Asp4864del | |
| XM_006723317.1:c.14569_14589del | XP_006723380.1:p.Phe4857_Asp4863del | |
| XM_006723319.1:c.14554_14574del | XP_006723382.1:p.Phe4852_Asp4858del | |
| XM_011527204.1:c.14584_14604del | XP_011525506.1:p.Phe4862_Asp4868del | |
| XM_011527205.1:c.14500_14520del | XP_011525507.1:p.Phe4834_Asp4840del | |
| XM_006723317.2:c.14569_14589del | XP_006723380.1:p.Phe4857_Asp4863del | |
| XM_006723319.2:c.14554_14574del | XP_006723382.1:p.Phe4852_Asp4858del | |
| XM_011527205.2:c.14500_14520del | XP_011525507.1:p.Phe4834_Asp4840del | |
| NM_000540.3:c.14587_14607del MANE Select | NP_000531.2:p.Phe4863_Asp4869del | |
| NM_001042723.2:c.14572_14592del | NP_001036188.1:p.Phe4858_Asp4864del |