Linked Data
ClinVar Variation Id:
470494
ClinVar RCV Id:
RCV000545744
dbSNP Id:
rs1554984685
COSMIC:
COSM4448216
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67991615_67991616delinsCT , CM000673.2:g.67991615_67991616delinsCT | GRCh38 |
| NC_000011.9:g.67759086_67759087delinsCT , CM000673.1:g.67759086_67759087delinsCT | GRCh37 |
| NC_000011.8:g.67515662_67515663delinsCT | NCBI36 |
| NG_007581.1:g.17508_17509delinsAG , LRG_123:g.17508_17509delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227471.7:c.1724_1725delinsAG MANE Select | ENSP00000227471.3:p.Pro575Gln | |
| ENST00000227471.6:c.1724_1725delinsAG | ENSP00000227471.3:p.Pro575Gln | |
| ENST00000610659.4:n.255-254_255-253delinsAG | ||
| NM_030930.3:c.1724_1725delinsAG | NP_112192.2:p.Pro575Gln | |
| XM_011545290.1:c.1313_1314delinsAG | XP_011543592.1:p.Pro438Gln | |
| XM_011545291.1:c.1169_1170delinsAG | XP_011543593.1:p.Pro390Gln | |
| XM_011545291.2:c.1169_1170delinsAG | XP_011543593.1:p.Pro390Gln | |
| NM_030930.4:c.1724_1725delinsAG MANE Select | NP_112192.2:p.Pro575Gln |