Linked Data
ClinVar Variation Id:
6432
ClinVar RCV Id:
RCV000006801
dbSNP Id:
rs121908860
COSMIC:
COSM26490
MyVariant Identifiers:
chr14:g.81610269_81610270delinsAT (hg19)
chr14:g.81143925_81143926delinsAT (hg38)
PubMed:
PMID:8413627
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81143925_81143926delinsAT , CM000676.2:g.81143925_81143926delinsAT | GRCh38 |
| NC_000014.8:g.81610269_81610270delinsAT , CM000676.1:g.81610269_81610270delinsAT | GRCh37 |
| NC_000014.7:g.80680022_80680023delinsAT | NCBI36 |
| NG_009206.1:g.193401_193402delinsAT , LRG_523:g.193401_193402delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298171.7:c.1867_1868delinsAT MANE Select | ENSP00000298171.2:p.Ala623Ile | |
| ENST00000637447.1:c.770_771delinsAT | ||
| ENST00000298171.6:c.1867_1868delinsAT | ENSP00000298171.2:p.Ala623Ile | |
| ENST00000541158.6:c.1867_1868delinsAT | ENSP00000441235.2:p.Ala623Ile | |
| NM_000369.2:c.1867_1868delinsAT , LRG_523t1:c.1867_1868delinsAT | NP_000360.2:p.Ala623Ile | |
| XM_005268037.3:c.1867_1868delinsAT | XP_005268094.1:p.Ala623Ile | |
| XM_011537119.1:c.1588_1589delinsAT | XP_011535421.1:p.Ala530Ile | |
| XR_245790.3:n.2086+21267_2086+21268delinsAT | ||
| XR_429385.2:n.853+21267_853+21268delinsAT | ||
| XR_429386.2:n.854+21267_854+21268delinsAT | ||
| XR_944075.1:n.865+21267_865+21268delinsAT | ||
| XR_944076.1:n.861+21267_861+21268delinsAT | ||
| XR_944077.1:n.865+21267_865+21268delinsAT | ||
| XR_944078.1:n.865+21267_865+21268delinsAT | ||
| XR_944079.1:n.855+21267_855+21268delinsAT | ||
| XM_005268037.4:c.1867_1868delinsAT | XP_005268094.1:p.Ala623Ile | |
| XM_011537119.2:c.1588_1589delinsAT | XP_011535421.1:p.Ala530Ile | |
| XR_001751021.1:n.2753+21267_2753+21268delinsAT | ||
| XR_001751022.1:n.2753+21267_2753+21268delinsAT | ||
| XR_001751023.1:n.2753+21267_2753+21268delinsAT | ||
| XR_944075.3:n.929+21267_929+21268delinsAT | ||
| NM_000369.4:c.1867_1868delinsAT | NP_000360.2:p.Ala623Ile | |
| NM_000369.5:c.1867_1868delinsAT MANE Select | NP_000360.2:p.Ala623Ile |