Linked Data
ClinVar Variation Id:
1342252
dbSNP Id:
rs57300282
ExAC:
9:27217791 T / TC
gnomAD v2:
9-27217791-T-TC
gnomAD v3:
9-27217793-T-TC
gnomAD v4:
9-27217793-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27217796dup , CM000671.2:g.27217796dup | GRCh38 |
| NC_000009.11:g.27217794dup , CM000671.1:g.27217794dup | GRCh37 |
| NC_000009.10:g.27207794dup | NCBI36 |
| NG_011828.1:g.113648dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.3062+38dup MANE Select | ENSP00000369375.4:n.3062+38dup | |
| ENST00000380036.8:c.3062+38dup | ENSP00000369375.4:n.3062+38dup | |
| ENST00000406359.8:c.2933+38dup | ENSP00000383977.4:n.2933+38dup | |
| ENST00000519097.5:c.2618+38dup | ENSP00000430686.1:n.2618+38dup | |
| ENST00000615002.4:c.*1563+38dup | ENSP00000480251.1:n.*1563+38dup | |
| NM_000459.4:c.3062+38dup | NP_000450.2:n.3062+38dup | |
| NM_001290077.1:c.2933+38dup | NP_001277006.1:n.2933+38dup | |
| NM_001290078.1:c.2618+38dup | NP_001277007.1:n.2618+38dup | |
| XM_005251561.1:c.3059+38dup | XP_005251618.1:n.3059+38dup | |
| XM_005251563.1:c.2930+38dup | XP_005251620.1:n.2930+38dup | |
| XM_005251561.2:c.3059+38dup | XP_005251618.1:n.3059+38dup | |
| XM_005251563.2:c.2930+38dup | XP_005251620.1:n.2930+38dup | |
| NM_000459.5:c.3062+38dup MANE Select | NP_000450.3:n.3062+38dup | |
| NM_001375475.1:c.3059+38dup | NP_001362404.1:n.3059+38dup | |
| NM_001375476.1:c.2930+38dup | NP_001362405.1:n.2930+38dup |