Linked Data
ClinVar Variation Id:
197665
ClinVar RCV Id:
RCV000178764
dbSNP Id:
rs794727702
MyVariant Identifiers:
chr1:g.24124686del (hg19)
chr1:g.24124686delA (hg19)
chr1:g.23798196del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798196del , CM000663.2:g.23798196del | GRCh38 |
| NC_000001.10:g.24124686del , CM000663.1:g.24124686del | GRCh37 |
| NC_000001.9:g.23997273del | NCBI36 |
| NG_007068.1:g.7609del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000617979.5:c.272del MANE Select | ENSP00000483375.1:p.Leu91ProfsTer19 | |
| ENST00000374497.7:c.272del | ENSP00000363621.3:p.Leu91ProfsTer19 | |
| ENST00000418277.5:c.80del | ENSP00000414719.1:p.Leu27ProfsTer19 | |
| ENST00000425913.5:c.272del | ENSP00000393359.1:p.Leu91ProfsTer19 | |
| ENST00000429356.5:c.80del | ENSP00000398585.1:p.Leu27ProfsTer19 | |
| ENST00000445705.1:c.272del | ENSP00000398257.1:p.Leu91ProfsTer19 | |
| ENST00000459934.5:n.390del | ||
| ENST00000467493.5:n.732del | ||
| ENST00000470949.5:n.217del | ||
| ENST00000481736.5:n.676del | ||
| ENST00000486382.1:n.373del | ||
| ENST00000617979.4:c.272del | ENSP00000483375.1:p.Leu91ProfsTer19 | |
| NM_000403.3:c.272del | NP_000394.2:p.Leu91ProfsTer19 | |
| NM_001008216.1:c.272del | NP_001008217.1:p.Leu91ProfsTer19 | |
| NM_001127621.1:c.272del | NP_001121093.1:p.Leu91ProfsTer19 | |
| NM_001008216.2:c.272del MANE Select | NP_001008217.1:p.Leu91ProfsTer19 | |
| NM_000403.4:c.272del | NP_000394.2:p.Leu91ProfsTer19 | |
| NM_001127621.2:c.272del | NP_001121093.1:p.Leu91ProfsTer19 |