Linked Data
dbSNP Id:
rs1388616726
gnomAD v3:
13-20187871-C-CAGAA
gnomAD v4:
13-20187871-C-CAGAA
MyVariant Identifiers:
chr13:g.20762010_20762011insAGAA (hg19)
chr13:g.20187871_20187872insAGAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20187873_20187876dup , CM000675.2:g.20187873_20187876dup | GRCh38 |
| NC_000013.10:g.20762012_20762015dup , CM000675.1:g.20762012_20762015dup | GRCh37 |
| NC_000013.9:g.19660012_19660015dup | NCBI36 |
| NG_008358.1:g.10101_10104dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382844.2:c.*1026_*1029dup | ENSP00000372295.1:n.*1026_*1029dup | |
| ENST00000382848.5:c.*1026_*1029dup MANE Select | ENSP00000372299.4:n.*1026_*1029dup | |
| ENST00000382844.1:c.*1026_*1029dup | ENSP00000372295.1:n.*1026_*1029dup | |
| ENST00000382848.4:c.*1026_*1029dup | ENSP00000372299.4:n.*1026_*1029dup | |
| NM_004004.5:c.*1026_*1029dup | NP_003995.2:n.*1026_*1029dup | |
| XM_011535049.1:c.*1026_*1029dup | XP_011533351.1:n.*1026_*1029dup | |
| XM_011535049.2:c.*1026_*1029dup | XP_011533351.1:n.*1026_*1029dup | |
| NM_004004.6:c.*1026_*1029dup MANE Select | NP_003995.2:n.*1026_*1029dup |