Linked Data
ClinVar Variation Id:
376826
ClinVar RCV Id:
RCV000427503
dbSNP Id:
rs772813026
ExAC:
22:46134663 A / AT
gnomAD v2:
22-46134663-A-AT
gnomAD v3:
22-45738783-A-AT
gnomAD v4:
22-45738783-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45738784dup , CM000684.2:g.45738784dup | GRCh38 |
| NC_000022.10:g.46134664dup , CM000684.1:g.46134664dup | GRCh37 |
| NC_000022.9:g.44513328dup | NCBI36 |
| NG_016212.1:g.71987dup | |
| NG_016212.2:g.71987dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252934.10:c.948dup MANE Select | ENSP00000252934.4:p.Thr317TyrfsTer2 | |
| ENST00000640901.1:c.957dup | ENSP00000491659.1:p.Thr320TyrfsTer2 | |
| ENST00000252934.9:c.948dup | ENSP00000252934.4:p.Thr317TyrfsTer2 | |
| ENST00000381061.8:c.756dup | ENSP00000370449.4:p.Thr253TyrfsTer2 | |
| ENST00000435026.5:c.204dup | ENSP00000391117.1:p.Thr69TyrfsTer2 | |
| ENST00000451241.2:n.46dup | ||
| ENST00000476998.5:n.427dup | ||
| ENST00000483549.5:n.291dup | ||
| ENST00000493643.3:n.137dup | ||
| NM_001167621.1:c.756dup | NP_001161093.1:p.Thr253TyrfsTer2 | |
| NM_013236.3:c.948dup | NP_037368.1:p.Thr317TyrfsTer2 | |
| NM_013236.4:c.948dup MANE Select | NP_037368.1:p.Thr317TyrfsTer2 | |
| NM_001167621.2:c.756dup | NP_001161093.1:p.Thr253TyrfsTer2 |