Linked Data
ClinVar Variation Id:
2822020
ClinVar RCV Id:
RCV003639852
dbSNP Id:
rs2147509613
gnomAD v4:
X-70027897-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70027902del , CM000685.2:g.70027902del | GRCh38 |
| NC_000023.10:g.69247752del , CM000685.1:g.69247752del | GRCh37 |
| NC_000023.9:g.69164477del | NCBI36 |
| NG_009809.1:g.416842del | |
| NG_009809.2:g.416836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374552.9:c.572del MANE Select | ENSP00000363680.4:p.Pro191GlnfsTer? | |
| ENST00000374552.8:c.572del | ENSP00000363680.4:p.Pro191GlnfsTer? | |
| ENST00000374553.6:c.572del | ENSP00000363681.2:p.Pro191GlnfsTer? | |
| ENST00000503592.5:c.176del | ENSP00000423037.1:p.Pro59GlnfsTer? | |
| ENST00000524573.5:c.572del | ENSP00000432585.1:p.Pro191GlnfsTer? | |
| ENST00000616899.1:c.176del | ENSP00000481963.1:p.Pro59GlnfsTer? | |
| NM_001005609.1:c.572del | NP_001005609.1:p.Pro191GlnfsTer? | |
| NM_001005612.2:c.572del | NP_001005612.2:p.Pro191GlnfsTer? | |
| NM_001399.4:c.572del | NP_001390.1:p.Pro191GlnfsTer? | |
| XM_006724630.2:c.572del | XP_006724693.1:p.Pro191GlnfsTer? | |
| XM_011530885.1:c.572del | XP_011529187.1:p.Pro191GlnfsTer? | |
| XM_011530885.2:c.572del | XP_011529187.1:p.Pro191GlnfsTer? | |
| XM_017029336.1:c.572del | XP_016884825.1:p.Pro191GlnfsTer? | |
| NM_001399.5:c.572del MANE Select | NP_001390.1:p.Pro191GlnfsTer? | |
| NM_001005609.2:c.572del | NP_001005609.1:p.Pro191GlnfsTer? | |
| NM_001005612.3:c.572del | NP_001005612.2:p.Pro191GlnfsTer? |