Linked Data
ClinVar Variation Id:
216870
dbSNP Id:
rs863224839
gnomAD v2:
3-10183639-GGAGTCCGGCCCGGAA-G
gnomAD v3:
3-10141955-GGAGTCCGGCCCGGAA-G
gnomAD v4:
3-10141955-GGAGTCCGGCCCGGAA-G
MyVariant Identifiers:
chr3:g.10183654_10183668del (hg19)
chr3:g.10183640_10183654del (hg19)
chr3:g.10141970_10141984del (hg38)
chr3:g.10141956_10141970del (hg38)
PubMed:
PMID:15300849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141970_10141984del , CM000665.2:g.10141970_10141984del | GRCh38 |
| NC_000003.11:g.10183654_10183668del , CM000665.1:g.10183654_10183668del | GRCh37 |
| NC_000003.10:g.10158654_10158668del | NCBI36 |
| NG_008212.3:g.5336_5350del , LRG_322:g.5336_5350del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.123_137del | ENSP00000512434.1:p.Glu42_Glu46del | |
| ENST00000696143.1:c.123_137del | ENSP00000512435.1:p.Glu42_Glu46del | |
| ENST00000696153.1:c.123_137del | ENSP00000512444.1:p.Glu42_Glu46del | |
| ENST00000256474.3:c.123_137del MANE Select | ENSP00000256474.3:p.Glu42_Glu46del | |
| ENST00000256474.2:c.123_137del | ENSP00000256474.2:p.Glu42_Glu46del | |
| ENST00000345392.2:c.123_137del | ENSP00000344757.2:p.Glu42_Glu46del | |
| NM_000551.3:c.123_137del , LRG_322t1:c.123_137del | NP_000542.1:p.Glu42_Glu46del | |
| NM_198156.2:c.123_137del | NP_937799.1:p.Glu42_Glu46del | |
| XM_011534078.1:c.123_137del | XP_011532380.1:p.Glu42_Glu46del | |
| NM_001354723.1:c.123_137del | NP_001341652.1:p.Glu42_Glu46del | |
| NM_000551.4:c.123_137del MANE Select | NP_000542.1:p.Glu42_Glu46del | |
| NM_001354723.2:c.123_137del | NP_001341652.1:p.Glu42_Glu46del | |
| NM_198156.3:c.123_137del | NP_937799.1:p.Glu42_Glu46del |