Linked Data
ClinVar Variation Id:
423296
dbSNP Id:
rs1555804000
MyVariant Identifiers:
chr19:g.39071114_39071119dupACCTGA (hg19)
chr19:g.38580474_38580479dupACCTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580474_38580479dup , CM000681.2:g.38580474_38580479dup | GRCh38 |
| NC_000019.9:g.39071114_39071119dup , CM000681.1:g.39071114_39071119dup | GRCh37 |
| NC_000019.8:g.43762954_43762959dup | NCBI36 |
| NG_008866.1:g.151775_151780dup , LRG_766:g.151775_151780dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1552_1557dup | ||
| ENST00000688602.1:c.2949_2954dup | ||
| ENST00000689936.1:c.2921_2926dup | ||
| ENST00000359596.8:c.14616_14621dup MANE Select | ENSP00000352608.2:p.Pro4873_Asp4874insGluPro | |
| ENST00000355481.8:c.14601_14606dup | ENSP00000347667.3:p.Pro4868_Asp4869insGluPro | |
| ENST00000359596.7:c.14616_14621dup | ENSP00000352608.2:p.Pro4873_Asp4874insGluPro | |
| ENST00000360985.7:c.14598_14603dup | ENSP00000354254.4:p.Pro4867_Asp4868insGluPro | |
| NM_000540.2:c.14616_14621dup , LRG_766t1:c.14616_14621dup | NP_000531.2:p.Pro4873_Asp4874insGluPro | |
| NM_001042723.1:c.14601_14606dup | NP_001036188.1:p.Pro4868_Asp4869insGluPro | |
| XM_006723317.1:c.14598_14603dup | XP_006723380.1:p.Pro4867_Asp4868insGluPro | |
| XM_006723319.1:c.14583_14588dup | XP_006723382.1:p.Pro4862_Asp4863insGluPro | |
| XM_011527204.1:c.14613_14618dup | XP_011525506.1:p.Pro4872_Asp4873insGluPro | |
| XM_011527205.1:c.14529_14534dup | XP_011525507.1:p.Pro4844_Asp4845insGluPro | |
| XM_006723317.2:c.14598_14603dup | XP_006723380.1:p.Pro4867_Asp4868insGluPro | |
| XM_006723319.2:c.14583_14588dup | XP_006723382.1:p.Pro4862_Asp4863insGluPro | |
| XM_011527205.2:c.14529_14534dup | XP_011525507.1:p.Pro4844_Asp4845insGluPro | |
| NM_000540.3:c.14616_14621dup MANE Select | NP_000531.2:p.Pro4873_Asp4874insGluPro | |
| NM_001042723.2:c.14601_14606dup | NP_001036188.1:p.Pro4868_Asp4869insGluPro |