Linked Data
ClinVar Variation Id:
2885005
ClinVar RCV Id:
RCV003758026
gnomAD v4:
19-38502730-G-GGAGCGGGGCAGGCTTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502732_38502748dup , CM000681.2:g.38502732_38502748dup | GRCh38 |
| NC_000019.9:g.38993372_38993388dup , CM000681.1:g.38993372_38993388dup | GRCh37 |
| NC_000019.8:g.43685212_43685228dup | NCBI36 |
| NG_008866.1:g.74033_74049dup , LRG_766:g.74033_74049dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7835+5_7835+21dup | ENSP00000471601.2:n.7835+5_7835+21dup | |
| ENST00000359596.8:c.7835+5_7835+21dup MANE Select | ENSP00000352608.2:n.7835+5_7835+21dup | |
| ENST00000355481.8:c.7835+5_7835+21dup | ENSP00000347667.3:n.7835+5_7835+21dup | |
| ENST00000359596.7:c.7835+5_7835+21dup | ENSP00000352608.2:n.7835+5_7835+21dup | |
| ENST00000360985.7:c.7832+5_7832+21dup | ENSP00000354254.4:n.7832+5_7832+21dup | |
| ENST00000594335.5:c.1287+5_1287+21dup | ||
| NM_000540.2:c.7835+5_7835+21dup , LRG_766t1:c.7835+5_7835+21dup | NP_000531.2:n.7835+5_7835+21dup | |
| NM_001042723.1:c.7835+5_7835+21dup | NP_001036188.1:n.7835+5_7835+21dup | |
| XM_006723317.1:c.7835+5_7835+21dup | XP_006723380.1:n.7835+5_7835+21dup | |
| XM_006723319.1:c.7835+5_7835+21dup | XP_006723382.1:n.7835+5_7835+21dup | |
| XM_011527204.1:c.7832+5_7832+21dup | XP_011525506.1:n.7832+5_7832+21dup | |
| XM_011527205.1:c.7835+5_7835+21dup | XP_011525507.1:n.7835+5_7835+21dup | |
| XM_006723317.2:c.7835+5_7835+21dup | XP_006723380.1:n.7835+5_7835+21dup | |
| XM_006723319.2:c.7835+5_7835+21dup | XP_006723382.1:n.7835+5_7835+21dup | |
| XM_011527205.2:c.7835+5_7835+21dup | XP_011525507.1:n.7835+5_7835+21dup | |
| XR_001753735.1:n.7918+5_7918+21dup | ||
| NM_000540.3:c.7835+5_7835+21dup MANE Select | NP_000531.2:n.7835+5_7835+21dup | |
| NM_001042723.2:c.7835+5_7835+21dup | NP_001036188.1:n.7835+5_7835+21dup |