Linked Data
ClinVar Variation Id:
1283724
ClinVar RCV Id:
RCV001691764
dbSNP Id:
rs757366027
ExAC:
15:48779221 A / ATAAAG
gnomAD v2:
15-48779221-A-ATAAAG
gnomAD v3:
15-48487024-A-ATAAAG
gnomAD v4:
15-48487024-A-ATAAAG
MyVariant Identifiers:
chr15:g.48779221_48779222insTAAAG (hg19)
chr15:g.48487024_48487025insTAAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487028_48487029insGTAAA , CM000677.2:g.48487028_48487029insGTAAA | GRCh38 |
| NC_000015.9:g.48779225_48779226insGTAAA , CM000677.1:g.48779225_48779226insGTAAA | GRCh37 |
| NC_000015.8:g.46566517_46566518insGTAAA | NCBI36 |
| NG_008805.2:g.163764_163765insCTTTA , LRG_778:g.163764_163765insCTTTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3589+50_3589+51insCTTTA | ENSP00000453958.2:n.3589+50_3589+51insCTTTA | |
| ENST00000674301.2:c.3589+50_3589+51insCTTTA | ENSP00000501333.2:n.3589+50_3589+51insCTTTA | |
| ENST00000684448.1:n.2263+50_2263+51insCTTTA | ||
| ENST00000316623.10:c.3589+50_3589+51insCTTTA MANE Select | ENSP00000325527.5:n.3589+50_3589+51insCTTTA | |
| ENST00000316623.9:c.3589+50_3589+51insCTTTA | ENSP00000325527.5:n.3589+50_3589+51insCTTTA | |
| ENST00000537463.6:c.637-12375_637-12374insCTTTA | ENSP00000440294.2:n.637-12375_637-12374insCTTTA | |
| NM_000138.4:c.3589+50_3589+51insCTTTA , LRG_778t1:c.3589+50_3589+51insCTTTA | NP_000129.3:n.3589+50_3589+51insCTTTA | |
| NM_000138.5:c.3589+50_3589+51insCTTTA MANE Select | NP_000129.3:n.3589+50_3589+51insCTTTA |