Linked Data
ClinVar Variation Id:
93907
dbSNP Id:
rs398123645
gnomAD v2:
21-47541471-GA-G
gnomAD v3:
21-46121557-GA-G
gnomAD v4:
21-46121557-GA-G
MyVariant Identifiers:
chr21:g.47541472del (hg19)
chr21:g.47541472delA (hg19)
chr21:g.46121558del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46121558del , CM000683.2:g.46121558del | GRCh38 |
| NC_000021.8:g.47541472del , CM000683.1:g.47541472del | GRCh37 |
| NC_000021.7:g.46365900del | NCBI36 |
| NG_008675.1:g.28440del , LRG_476:g.28440del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397763.6:c.1461del MANE Plus Clinical | ENSP00000380870.1:p.Ser488LeufsTer? | |
| ENST00000300527.9:c.1461del MANE Select | ENSP00000300527.4:p.Ser488LeufsTer? | |
| ENST00000409416.6:c.1461del | ENSP00000387115.1:p.Ser488LeufsTer? | |
| ENST00000300527.8:c.1461del | ENSP00000300527.4:p.Ser488LeufsTer? | |
| ENST00000310645.9:c.1461del | ENSP00000312529.5:p.Ser488LeufsTer? | |
| ENST00000397763.5:c.1461del | ENSP00000380870.1:p.Ser488LeufsTer? | |
| ENST00000409416.5:c.1461del | ENSP00000387115.1:p.Ser488LeufsTer? | |
| ENST00000413758.1:c.84del | ENSP00000395751.1:p.Ser29LeufsTer? | |
| NM_001849.3:c.1461del , LRG_476t1:c.1461del | NP_001840.3:p.Ser488LeufsTer? | |
| NM_058174.2:c.1461del | NP_478054.2:p.Ser488LeufsTer? | |
| NM_058175.2:c.1461del | NP_478055.2:p.Ser488LeufsTer? | |
| XM_011529451.1:c.1461del | XP_011527753.1:p.Ser488LeufsTer? | |
| XM_011529452.1:c.1461del | XP_011527754.1:p.Ser488LeufsTer? | |
| XR_937438.1:n.1584del | ||
| XR_937439.1:n.1584del | ||
| XR_937438.2:n.1591del | ||
| XR_937439.2:n.1591del | ||
| NM_001849.4:c.1461del MANE Select | NP_001840.3:p.Ser488LeufsTer? | |
| NM_058174.3:c.1461del MANE Plus Clinical | NP_478054.2:p.Ser488LeufsTer? | |
| NM_058175.3:c.1461del | NP_478055.2:p.Ser488LeufsTer? |