Linked Data
ClinVar Variation Id:
1909242
ClinVar RCV Id:
RCV002587305
dbSNP Id:
rs1351236437
gnomAD v2:
21-43795829-A-ATCTGC
gnomAD v3:
21-42375720-A-ATCTGC
gnomAD v4:
21-42375720-A-ATCTGC
MyVariant Identifiers:
chr21:g.43795829_43795830insTCTGC (hg19)
chr21:g.42375720_42375721insTCTGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42375723_42375727dup , CM000683.2:g.42375723_42375727dup | GRCh38 |
| NC_000021.8:g.43795832_43795836dup , CM000683.1:g.43795832_43795836dup | GRCh37 |
| NC_000021.7:g.42668901_42668905dup | NCBI36 |
| NG_011629.1:g.25367_25371dup | |
| NG_011629.2:g.25367_25371dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.1338_1342dup | ENSP00000411013.3:p.Met448SerfsTer7 | |
| ENST00000644384.2:c.1335_1339dup MANE Select | ENSP00000494414.1:p.Met447SerfsTer7 | |
| ENST00000652415.1:c.1335_1339dup | ENSP00000498756.1:p.Met447SerfsTer7 | |
| ENST00000291532.7:c.1338_1342dup | ENSP00000291532.3:p.Met448SerfsTer7 | |
| ENST00000398405.5:c.1329_1333dup | ENSP00000381442.1:p.Met445SerfsTer7 | |
| ENST00000433957.6:c.1335_1339dup | ENSP00000411013.2:p.Met447SerfsTer7 | |
| ENST00000474596.5:n.1206_1210dup | ||
| ENST00000476848.5:n.2070_2074dup | ||
| ENST00000482761.1:n.1625_1629dup | ||
| NM_001256317.1:c.1335_1339dup | NP_001243246.1:p.Met447SerfsTer7 | |
| NM_024022.2:c.1338_1342dup | NP_076927.1:p.Met448SerfsTer7 | |
| NM_032404.2:c.957_961dup | NP_115780.1:p.Met321SerfsTer7 | |
| NR_046020.1:n.2294_2298dup | ||
| NM_001256317.2:c.1335_1339dup | NP_001243246.1:p.Met447SerfsTer7 | |
| NM_024022.3:c.1338_1342dup | NP_076927.1:p.Met448SerfsTer7 | |
| NM_001256317.3:c.1335_1339dup MANE Select | NP_001243246.1:p.Met447SerfsTer7 | |
| NM_024022.4:c.1338_1342dup | NP_076927.1:p.Met448SerfsTer7 | |
| NM_032404.3:c.957_961dup | NP_115780.1:p.Met321SerfsTer7 |