Linked Data
ClinVar Variation Id:
2839616
ClinVar RCV Id:
RCV003608158
gnomAD v4:
22-49913732-G-GGGGCCGCCTGCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.49913734_49913746dup , CM000684.2:g.49913734_49913746dup | GRCh38 |
| NC_000022.10:g.50307382_50307394dup , CM000684.1:g.50307382_50307394dup | GRCh37 |
| NC_000022.9:g.48693386_48693398dup | NCBI36 |
| NG_008927.1:g.9714_9726dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330817.11:c.21_33dup MANE Select | ENSP00000333813.5:p.Leu12ArgfsTer? | |
| ENST00000330817.10:c.21_33dup | ENSP00000333813.5:p.Leu12ArgfsTer? | |
| NM_024105.3:c.21_33dup | NP_077010.1:p.Leu12ArgfsTer? | |
| XM_011530369.1:c.21_33dup | XP_011528671.1:p.Leu12ArgfsTer? | |
| XM_011530370.1:c.21_33dup | XP_011528672.1:p.Leu12ArgfsTer? | |
| XM_011530371.1:c.21_33dup | XP_011528673.1:p.Leu12ArgfsTer? | |
| XM_011530371.2:c.21_33dup | XP_011528673.1:p.Leu12ArgfsTer? | |
| XM_017028936.1:c.21_33dup | XP_016884425.1:p.Leu12ArgfsTer? | |
| XM_017028937.1:c.21_33dup | XP_016884426.1:p.Leu12ArgfsTer? | |
| NM_024105.4:c.21_33dup MANE Select | NP_077010.1:p.Leu12ArgfsTer? |