Linked Data
ClinVar Variation Id:
236015
ClinVar RCV Id:
RCV000225003
dbSNP Id:
rs532338576
ExAC:
22:23917217 AC / A
gnomAD v2:
22-23917217-AC-A
gnomAD v3:
22-23575030-AC-A
gnomAD v4:
22-23575030-AC-A
COSMIC:
COSM1415138
MyVariant Identifiers:
chr22:g.23917218del (hg19)
chr22:g.23575032del (hg38)
chr22:g.23575031del (hg38)
PubMed:
PMID:25502423
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23575035del , CM000684.2:g.23575035del | GRCh38 |
| NC_000022.10:g.23917222del , CM000684.1:g.23917222del | GRCh37 |
| NC_000022.9:g.22247222del | NCBI36 |
| NG_009791.1:g.10278del , LRG_69:g.10278del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.258del MANE Select | ENSP00000329312.2:p.Gln88AsnfsTer7 | |
| ENST00000249053.3:c.207-1446del | ENSP00000249053.3:n.207-1446del | |
| ENST00000330377.2:c.258del | ENSP00000329312.2:p.Gln88AsnfsTer7 | |
| ENST00000438703.1:c.261del | ENSP00000403391.1:p.Gln89AsnfsTer7 | |
| NM_020070.3:c.258del | NP_064455.1:p.Gln88AsnfsTer7 | |
| NM_152855.2:c.207-1446del | NP_690594.1:n.207-1446del | |
| XM_011530169.1:c.261del | XP_011528471.1:p.Gln89AsnfsTer7 | |
| XM_011530169.2:c.261del | XP_011528471.1:p.Gln89AsnfsTer7 | |
| NM_020070.4:c.258del MANE Select | NP_064455.1:p.Gln88AsnfsTer7 | |
| NM_001369906.1:c.261del | NP_001356835.1:p.Gln89AsnfsTer7 | |
| NM_152855.3:c.207-1446del | NP_690594.1:n.207-1446del |