Linked Data
ClinVar Variation Id:
1571789
ClinVar RCV Id:
RCV002219279
dbSNP Id:
rs2145889339
gnomAD v4:
19-38578208-A-AGCAGGGGCCCACAGACTGGGGAGGGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578209_38578235dup , CM000681.2:g.38578209_38578235dup | GRCh38 |
| NC_000019.9:g.39068849_39068875dup , CM000681.1:g.39068849_39068875dup | GRCh37 |
| NC_000019.8:g.43760689_43760715dup | NCBI36 |
| NG_008866.1:g.149510_149536dup , LRG_766:g.149510_149536dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1300+5_1300+31dup | ||
| ENST00000688602.1:c.2697+5_2697+31dup | ||
| ENST00000689936.1:c.2669+5_2669+31dup | ||
| ENST00000359596.8:c.14364+5_14364+31dup MANE Select | ENSP00000352608.2:n.14364+5_14364+31dup | |
| ENST00000355481.8:c.14349+5_14349+31dup | ENSP00000347667.3:n.14349+5_14349+31dup | |
| ENST00000359596.7:c.14364+5_14364+31dup | ENSP00000352608.2:n.14364+5_14364+31dup | |
| ENST00000360985.7:c.14346+5_14346+31dup | ENSP00000354254.4:n.14346+5_14346+31dup | |
| NM_000540.2:c.14364+5_14364+31dup , LRG_766t1:c.14364+5_14364+31dup | NP_000531.2:n.14364+5_14364+31dup | |
| NM_001042723.1:c.14349+5_14349+31dup | NP_001036188.1:n.14349+5_14349+31dup | |
| XM_006723317.1:c.14346+5_14346+31dup | XP_006723380.1:n.14346+5_14346+31dup | |
| XM_006723319.1:c.14331+5_14331+31dup | XP_006723382.1:n.14331+5_14331+31dup | |
| XM_011527204.1:c.14361+5_14361+31dup | XP_011525506.1:n.14361+5_14361+31dup | |
| XM_011527205.1:c.14277+5_14277+31dup | XP_011525507.1:n.14277+5_14277+31dup | |
| XM_006723317.2:c.14346+5_14346+31dup | XP_006723380.1:n.14346+5_14346+31dup | |
| XM_006723319.2:c.14331+5_14331+31dup | XP_006723382.1:n.14331+5_14331+31dup | |
| XM_011527205.2:c.14277+5_14277+31dup | XP_011525507.1:n.14277+5_14277+31dup | |
| NM_000540.3:c.14364+5_14364+31dup MANE Select | NP_000531.2:n.14364+5_14364+31dup | |
| NM_001042723.2:c.14349+5_14349+31dup | NP_001036188.1:n.14349+5_14349+31dup |