Linked Data
ClinVar Variation Id:
225479
ClinVar RCV Id:
RCV000490458
dbSNP Id:
rs1085307096
gnomAD v2:
3-133666104-GGGGGTAGACTTC-G
gnomAD v3:
3-133947260-GGGGGTAGACTTC-G
gnomAD v4:
3-133947260-GGGGGTAGACTTC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133947263_133947274del , CM000665.2:g.133947263_133947274del | GRCh38 |
| NC_000003.11:g.133666107_133666118del , CM000665.1:g.133666107_133666118del | GRCh37 |
| NC_000003.10:g.135148797_135148808del | NCBI36 |
| NG_031964.2:g.109913_109924del | |
| NG_031964.3:g.109913_109924del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310926.11:c.1279_1290del MANE Select | ENSP00000311291.4:p.Glu427_Pro430del | |
| ENST00000310926.8:c.1279_1290del | ENSP00000311291.4:p.Glu427_Pro430del | |
| ENST00000462770.5:n.859_870del | ||
| ENST00000481359.3:c.1105+1264_1105+1275del | ENSP00000420028.3:n.1105+1264_1105+1275de... | |
| ENST00000493729.5:c.1051_1062del | ENSP00000418893.1:p.Glu351_Pro354del | |
| NM_005630.2:c.1279_1290del | NP_005621.2:p.Glu427_Pro430del | |
| XM_011513090.1:c.1279_1290del | XP_011511392.1:p.Glu427_Pro430del | |
| XM_017007077.1:c.775_786del | XP_016862566.1:p.Glu259_Pro262del | |
| XM_024453721.1:c.1279_1290del | XP_024309489.1:p.Glu427_Pro430del | |
| NM_005630.3:c.1279_1290del MANE Select | NP_005621.2:p.Glu427_Pro430del |