Linked Data
ClinVar Variation Id:
527146
ClinVar RCV Id:
RCV000631912
dbSNP Id:
rs1555397733
MyVariant Identifiers:
chr15:g.48766808_48766809insTGCCAGAGTTGTG (hg19)
chr15:g.48474611_48474612insTGCCAGAGTTGTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48474616_48474617insGAGTTGTGTGCCA , CM000677.2:g.48474616_48474617insGAGTTGTGTGCCA | GRCh38 |
| NC_000015.9:g.48766813_48766814insGAGTTGTGTGCCA , CM000677.1:g.48766813_48766814insGAGTTGTGTGCCA | GRCh37 |
| NC_000015.8:g.46554105_46554106insGAGTTGTGTGCCA | NCBI36 |
| NG_008805.2:g.176177_176178insCACAACTCTGGCA , LRG_778:g.176177_176178insCACAACTCTGGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.4003_4004insCACAACTCTGGCA | ENSP00000453958.2:p.Lys1335ThrfsTer19 | |
| ENST00000674301.2:c.4003_4004insCACAACTCTGGCA | ENSP00000501333.2:p.Lys1335ThrfsTer19 | |
| ENST00000684448.1:n.2677_2678insCACAACTCTGGCA | ||
| ENST00000316623.10:c.4003_4004insCACAACTCTGGCA MANE Select | ENSP00000325527.5:p.Lys1335ThrfsTer19 | |
| ENST00000316623.9:c.4003_4004insCACAACTCTGGCA | ENSP00000325527.5:p.Lys1335ThrfsTer19 | |
| ENST00000537463.6:c.675_676insCACAACTCTGGCA | ENSP00000440294.2:p.Asn226HisfsTer? | |
| NM_000138.4:c.4003_4004insCACAACTCTGGCA , LRG_778t1:c.4003_4004insCACAACTCTGGCA | NP_000129.3:p.Lys1335ThrfsTer19 | |
| NM_000138.5:c.4003_4004insCACAACTCTGGCA MANE Select | NP_000129.3:p.Lys1335ThrfsTer19 |