Linked Data
ClinVar Variation Id:
556123
ClinVar RCV Id:
RCV000672078
dbSNP Id:
rs1553162788
gnomAD v3:
1-45507544-TAGAG-T
gnomAD v4:
1-45507544-TAGAG-T
MyVariant Identifiers:
chr1:g.45507547_45507550del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45507547_45507550del , CM000663.2:g.45507547_45507550del | GRCh38 |
| NC_000001.10:g.45973219_45973222del , CM000663.1:g.45973219_45973222del | GRCh37 |
| NC_000001.9:g.45745806_45745809del | NCBI36 |
| NG_013378.1:g.12364_12367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401061.9:c.273_276del MANE Select | ENSP00000383840.4:p.Glu92AlafsTer7 | |
| ENST00000401061.8:c.273_276del | ENSP00000383840.4:p.Glu92AlafsTer7 | |
| ENST00000616135.1:c.102_105del | ENSP00000478859.1:p.Glu35AlafsTer7 | |
| NM_015506.2:c.273_276del | NP_056321.2:p.Glu92AlafsTer7 | |
| XM_005270724.3:c.82-665_82-662del | XP_005270781.1:n.82-665_82-662del | |
| XM_011541204.1:c.102_105del | XP_011539506.1:p.Glu35AlafsTer7 | |
| NM_001330540.1:c.102_105del | NP_001317469.1:p.Glu35AlafsTer7 | |
| XM_005270724.5:c.82-665_82-662del | XP_005270781.1:n.82-665_82-662del | |
| NM_015506.3:c.273_276del MANE Select | NP_056321.2:p.Glu92AlafsTer7 | |
| NM_001330540.2:c.102_105del | NP_001317469.1:p.Glu35AlafsTer7 |