Linked Data
ClinVar Variation Id:
975501
ClinVar RCV Id:
RCV001252164
dbSNP Id:
rs1245021867
gnomAD v3:
1-197142845-ATTATT-A
gnomAD v4:
1-197142845-ATTATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197142848_197142852del , CM000663.2:g.197142848_197142852del | GRCh38 |
| NC_000001.10:g.197111978_197111982del , CM000663.1:g.197111978_197111982del | GRCh37 |
| NC_000001.9:g.195378601_195378605del | NCBI36 |
| NG_015867.1:g.8845_8849del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.1402_1406del MANE Select | ENSP00000356379.4:p.Asn468SerfsTer2 | |
| ENST00000679766.1:n.1619_1623del | ||
| ENST00000680265.1:c.1402_1406del | ENSP00000505384.1:p.Asn468SerfsTer2 | |
| ENST00000680710.1:c.1402_1406del | ENSP00000506676.1:p.Asn468SerfsTer2 | |
| ENST00000681879.1:c.1402_1406del | ENSP00000505363.1:p.Asn468SerfsTer2 | |
| ENST00000294732.11:c.1402_1406del | ENSP00000294732.7:p.Asn468SerfsTer2 | |
| ENST00000367409.8:c.1402_1406del | ENSP00000356379.4:p.Asn468SerfsTer2 | |
| ENST00000612785.1:c.561+841_561+845del | ENSP00000479244.1:n.561+841_561+845del | |
| NM_001206846.1:c.1402_1406del | NP_001193775.1:p.Asn468SerfsTer2 | |
| NM_018136.4:c.1402_1406del | NP_060606.3:p.Asn468SerfsTer2 | |
| NM_018136.5:c.1402_1406del MANE Select | NP_060606.3:p.Asn468SerfsTer2 | |
| NM_001206846.2:c.1402_1406del | NP_001193775.1:p.Asn468SerfsTer2 |