Linked Data
ClinVar Variation Id:
161421
ClinVar RCV Id:
RCV000202486
dbSNP Id:
rs864309482
MyVariant Identifiers:
chr21:g.45194518_45194537delinsTT (hg19)
chr21:g.43774637_43774656delinsTT (hg38)
PubMed:
PMID:20301321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43774637_43774656delinsTT , CM000683.2:g.43774637_43774656delinsTT | GRCh38 |
| NC_000021.8:g.45194518_45194537delinsTT , CM000683.1:g.45194518_45194537delinsTT | GRCh37 |
| NC_000021.7:g.44018946_44018965delinsTT | NCBI36 |
| NG_011545.1:g.6723_6742delinsAA , LRG_485:g.6723_6742delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291568.7:c.168+2_168+21delinsAA MANE Select | ENSP00000291568.6:n.168+2_168+21delinsAA | |
| ENST00000480147.3:n.1613_1632delinsAA | ||
| ENST00000639959.1:c.36-326_36-307delinsAA | ||
| ENST00000640406.1:c.170_189delinsAA | ENSP00000492672.1:p.Val57_Gln62del | |
| ENST00000675996.1:n.593+2_593+21delinsAA | ||
| ENST00000291568.5:c.168+2_168+21delinsAA | ENSP00000291568.5:n.168+2_168+21delinsAA | |
| ENST00000480147.1:n.207_226delinsAA | ||
| NM_000100.3:c.168+2_168+21delinsAA , LRG_485t1:c.168+2_168+21delinsAA | NP_000091.1:n.168+2_168+21delinsAA | |
| NM_000100.4:c.168+2_168+21delinsAA MANE Select | NP_000091.1:n.168+2_168+21delinsAA |