Linked Data
ClinVar Variation Id:
339915
ClinVar RCV Id:
RCV000280668
dbSNP Id:
rs3031056
gnomAD v2:
21-38123404-A-AAT
gnomAD v3:
21-36751103-A-AAT
gnomAD v4:
21-36751103-A-AAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36751104_36751105dup , CM000683.2:g.36751104_36751105dup | GRCh38 |
| NC_000021.8:g.38123405_38123406dup , CM000683.1:g.38123405_38123406dup | GRCh37 |
| NC_000021.7:g.37045275_37045276dup | NCBI36 |
| NG_016193.1:g.244131_244132dup | |
| NG_029519.1:g.56415_56416dup | |
| NG_016193.2:g.244290_244291dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674895.3:c.*3141_*3142dup MANE Select | ENSP00000502087.2:n.*3141_*3142dup | |
| ENST00000674895.2:c.*3141_*3142dup | ENSP00000502087.1:n.*3141_*3142dup | |
| ENST00000336648.8:c.*3141_*3142dup | ENSP00000338387.3:n.*3141_*3142dup | |
| ENST00000612277.4:c.*3141_*3142dup | ENSP00000479939.1:n.*3141_*3142dup | |
| NM_000411.6:c.*3141_*3142dup | NP_000402.3:n.*3141_*3142dup | |
| NM_001242784.1:c.*3141_*3142dup | NP_001229713.1:n.*3141_*3142dup | |
| NM_001242785.1:c.*3141_*3142dup | NP_001229714.1:n.*3141_*3142dup | |
| NM_000411.7:c.*3141_*3142dup | NP_000402.3:n.*3141_*3142dup | |
| NM_001242784.2:c.*3141_*3142dup | NP_001229713.1:n.*3141_*3142dup | |
| NM_001242785.2:c.*3141_*3142dup | NP_001229714.1:n.*3141_*3142dup | |
| NM_001352514.1:c.*3141_*3142dup | NP_001339443.1:n.*3141_*3142dup | |
| NM_001352515.1:c.*3141_*3142dup | NP_001339444.1:n.*3141_*3142dup | |
| NM_001352516.1:c.*3141_*3142dup | NP_001339445.1:n.*3141_*3142dup | |
| NM_001352517.1:c.*3141_*3142dup | NP_001339446.1:n.*3141_*3142dup | |
| NM_001352518.1:c.*3141_*3142dup | NP_001339447.1:n.*3141_*3142dup | |
| NR_148020.1:n.6030_6031dup | ||
| NR_148021.1:n.6004_6005dup | ||
| NM_000411.8:c.*3141_*3142dup | NP_000402.3:n.*3141_*3142dup | |
| NM_001242784.3:c.*3141_*3142dup | NP_001229713.1:n.*3141_*3142dup | |
| NM_001352514.2:c.*3141_*3142dup MANE Select | NP_001339443.1:n.*3141_*3142dup | |
| NM_001352515.2:c.*3141_*3142dup | NP_001339444.1:n.*3141_*3142dup | |
| NM_001352516.2:c.*3141_*3142dup | NP_001339445.1:n.*3141_*3142dup | |
| NR_148020.2:n.5847_5848dup | ||
| NM_001352518.2:c.*3141_*3142dup | NP_001339447.1:n.*3141_*3142dup |