Linked Data
ClinVar Variation Id:
41425
dbSNP Id:
rs397509383
MyVariant Identifiers:
chr17:g.39977213_39977214delinsA (hg19)
chr17:g.41820961_41820962delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41820961_41820962delinsA , CM000679.2:g.41820961_41820962delinsA | GRCh38 |
| NC_000017.10:g.39977213_39977214delinsA , CM000679.1:g.39977213_39977214delinsA | GRCh37 |
| NC_000017.9:g.37230739_37230740delinsA | NCBI36 |
| NG_015860.1:g.13252_13253delinsA , LRG_12:g.13252_13253delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.935_936delinsA | ENSP00000516497.1:p.Ala312AspfsTer12 | |
| ENST00000321562.9:c.1271_1272delinsA MANE Select | ENSP00000317232.4:p.Ala424AspfsTer12 | |
| ENST00000321562.8:c.1271_1272delinsA | ENSP00000317232.4:p.Ala424AspfsTer12 | |
| ENST00000455106.1:c.682_683delinsA | ||
| ENST00000464180.1:n.519_520delinsA | ||
| ENST00000489591.5:c.*1055_*1056delinsA | ENSP00000466352.1:n.*1055_*1056delinsA | |
| ENST00000490938.5:n.474_475delinsA | ||
| NM_021939.3:c.1271_1272delinsA , LRG_12t1:c.1271_1272delinsA | NP_068758.3:p.Ala424AspfsTer12 | |
| XM_011525099.1:c.1328_1329delinsA | XP_011523401.1:p.Ala443AspfsTer12 | |
| XM_011525100.1:c.1055_1056delinsA | XP_011523402.1:p.Ala352AspfsTer12 | |
| XM_011525099.3:c.1328_1329delinsA | XP_011523401.1:p.Ala443AspfsTer12 | |
| XM_011525100.2:c.1055_1056delinsA | XP_011523402.1:p.Ala352AspfsTer12 | |
| NM_021939.4:c.1271_1272delinsA MANE Select | NP_068758.3:p.Ala424AspfsTer12 |