Linked Data
ClinVar Variation Id:
133054
ClinVar RCV Id:
RCV000119492
dbSNP Id:
rs193922861
MyVariant Identifiers:
chr19:g.39062853_39062858del (hg19)
chr19:g.39062851_39062856del (hg19)
chr19:g.38572213_38572218del (hg38)
chr19:g.38572211_38572216del (hg38)
PubMed:
PMID:11709545
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572213_38572218del , CM000681.2:g.38572213_38572218del | GRCh38 |
| NC_000019.9:g.39062853_39062858del , CM000681.1:g.39062853_39062858del | GRCh37 |
| NC_000019.8:g.43754693_43754698del | NCBI36 |
| NG_008866.1:g.143514_143519del , LRG_766:g.143514_143519del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.877_882del | ||
| ENST00000688602.1:c.2274_2279del | ||
| ENST00000689936.1:c.2246_2251del | ||
| ENST00000359596.8:c.13941_13946del MANE Select | ENSP00000352608.2:p.Ser4648_Leu4649del | |
| ENST00000355481.8:c.13926_13931del | ENSP00000347667.3:p.Ser4643_Leu4644del | |
| ENST00000359596.7:c.13941_13946del | ENSP00000352608.2:p.Ser4648_Leu4649del | |
| ENST00000360985.7:c.13923_13928del | ENSP00000354254.4:p.Ser4642_Leu4643del | |
| ENST00000593677.1:c.401_406del | ||
| NM_000540.2:c.13941_13946del , LRG_766t1:c.13941_13946del | NP_000531.2:p.Ser4648_Leu4649del | |
| NM_001042723.1:c.13926_13931del | NP_001036188.1:p.Ser4643_Leu4644del | |
| XM_006723317.1:c.13923_13928del | XP_006723380.1:p.Ser4642_Leu4643del | |
| XM_006723319.1:c.13908_13913del | XP_006723382.1:p.Ser4637_Leu4638del | |
| XM_011527204.1:c.13938_13943del | XP_011525506.1:p.Ser4647_Leu4648del | |
| XM_011527205.1:c.13854_13859del | XP_011525507.1:p.Ser4619_Leu4620del | |
| XM_006723317.2:c.13923_13928del | XP_006723380.1:p.Ser4642_Leu4643del | |
| XM_006723319.2:c.13908_13913del | XP_006723382.1:p.Ser4637_Leu4638del | |
| XM_011527205.2:c.13854_13859del | XP_011525507.1:p.Ser4619_Leu4620del | |
| NM_000540.3:c.13941_13946del MANE Select | NP_000531.2:p.Ser4648_Leu4649del | |
| NM_001042723.2:c.13926_13931del | NP_001036188.1:p.Ser4643_Leu4644del |