Linked Data
ClinVar Variation Id:
1323972
ClinVar RCV Id:
RCV001780677
dbSNP Id:
rs767469658
gnomAD v2:
3-165547663-GA-G
gnomAD v3:
3-165829875-GA-G
gnomAD v4:
3-165829875-GA-G
COSMIC:
COSM5059475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829881del , CM000665.2:g.165829881del | GRCh38 |
| NC_000003.11:g.165547669del , CM000665.1:g.165547669del | GRCh37 |
| NC_000003.10:g.167030363del | NCBI36 |
| NG_009031.1:g.12590del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1158del MANE Select | ENSP00000264381.3:p.Pro387GlnfsTer3 | |
| ENST00000264381.7:c.1158del | ENSP00000264381.3:p.Pro387GlnfsTer3 | |
| ENST00000479451.5:c.107+7438del | ENSP00000418325.1:n.107+7438del | |
| ENST00000482958.1:c.1158del | ENSP00000419804.1:p.Pro387GlnfsTer3 | |
| ENST00000488954.1:c.107+7438del | ENSP00000418504.1:n.107+7438del | |
| ENST00000497011.5:c.1158del | ENSP00000419505.1:p.Pro387GlnfsTer3 | |
| NM_000055.2:c.1158del | NP_000046.1:p.Pro387GlnfsTer3 | |
| XM_005247685.1:c.1281del | XP_005247742.1:p.Pro428GlnfsTer3 | |
| NM_000055.3:c.1158del | NP_000046.1:p.Pro387GlnfsTer3 | |
| NR_137635.1:n.159+7438del | ||
| NR_137636.1:n.1325del | ||
| NM_000055.4:c.1158del MANE Select | NP_000046.1:p.Pro387GlnfsTer3 | |
| NR_137635.2:n.110+7438del | ||
| NR_137636.2:n.1276del |