Linked Data
ClinVar Variation Id:
94192
ClinVar RCV Id:
RCV000179089
dbSNP Id:
rs398123735
MyVariant Identifiers:
chr12:g.49416389_49416405delinsG (hg19)
chr12:g.49022606_49022622delinsG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49022606_49022622delinsG , CM000674.2:g.49022606_49022622delinsG | GRCh38 |
| NC_000012.11:g.49416389_49416405delinsG , CM000674.1:g.49416389_49416405delinsG | GRCh37 |
| NC_000012.10:g.47702656_47702672delinsG | NCBI36 |
| NG_027827.1:g.37703_37719delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526209.2:c.276_292delinsC | ||
| ENST00000681974.1:n.978_994delinsC | ||
| ENST00000682693.1:n.1940_1956delinsC | ||
| ENST00000682886.1:n.476_492delinsC | ||
| ENST00000683543.2:c.16354_16370delinsC | ENSP00000506726.1:p.Ala5452GlnfsTer15 | |
| ENST00000683988.1:c.277_293delinsC | ENSP00000506939.1:p.Ala93GlnfsTer15 | |
| ENST00000684428.1:c.841_857delinsC | ENSP00000507433.1:p.Ala281GlnfsTer25 | |
| ENST00000684755.1:n.889_905delinsC | ||
| ENST00000685024.1:c.1460_1476delinsC | ||
| ENST00000685166.1:c.16315_16331delinsC | ENSP00000509386.1:p.Ala5439GlnfsTer15 | |
| ENST00000688411.1:c.783_799delinsC | ENSP00000510146.1:n.783_799delinsC | |
| ENST00000691932.1:c.307_323delinsC | ENSP00000509037.1:p.Ala103GlnfsTer15 | |
| ENST00000692637.1:c.16303_16319delinsC | ENSP00000509666.1:p.Ala5435GlnfsTer15 | |
| ENST00000301067.12:c.16306_16322delinsC MANE Select | ENSP00000301067.7:p.Ala5436GlnfsTer15 | |
| ENST00000301067.11:c.16306_16322delinsC | ENSP00000301067.7:p.Ala5436GlnfsTer15 | |
| ENST00000526209.1:c.349_365delinsC | ENSP00000435714.1:p.Ala117GlnfsTer15 | |
| NM_003482.3:c.16306_16322delinsC | NP_003473.3:p.Ala5436GlnfsTer15 | |
| XM_005269162.3:c.16306_16322delinsC | XP_005269219.1:p.Ala5436GlnfsTer15 | |
| XM_006719614.2:c.16315_16331delinsC | XP_006719677.1:p.Ala5439GlnfsTer15 | |
| XM_006719616.2:c.16303_16319delinsC | XP_006719679.1:p.Ala5435GlnfsTer15 | |
| XM_011538770.1:c.16363_16379delinsC | XP_011537072.1:p.Ala5455GlnfsTer15 | |
| XM_011538771.1:c.16360_16376delinsC | XP_011537073.1:p.Ala5454GlnfsTer15 | |
| XM_011538772.1:c.16354_16370delinsC | XP_011537074.1:p.Ala5452GlnfsTer15 | |
| XM_011538773.1:c.16351_16367delinsC | XP_011537075.1:p.Ala5451GlnfsTer15 | |
| XM_011538774.1:c.16342_16358delinsC | XP_011537076.1:p.Ala5448GlnfsTer15 | |
| XM_011538775.1:c.16297_16313delinsC | XP_011537077.1:p.Ala5433GlnfsTer15 | |
| XM_011538776.1:c.16270_16286delinsC | XP_011537078.1:p.Ala5424GlnfsTer15 | |
| XM_005269162.4:c.16306_16322delinsC | XP_005269219.1:p.Ala5436GlnfsTer15 | |
| XM_006719614.4:c.16315_16331delinsC | XP_006719677.1:p.Ala5439GlnfsTer15 | |
| XM_006719616.3:c.16303_16319delinsC | XP_006719679.1:p.Ala5435GlnfsTer15 | |
| XM_011538770.2:c.16363_16379delinsC | XP_011537072.1:p.Ala5455GlnfsTer15 | |
| XM_011538771.2:c.16360_16376delinsC | XP_011537073.1:p.Ala5454GlnfsTer15 | |
| XM_011538772.2:c.16354_16370delinsC | XP_011537074.1:p.Ala5452GlnfsTer15 | |
| XM_011538773.2:c.16351_16367delinsC | XP_011537075.1:p.Ala5451GlnfsTer15 | |
| XM_011538774.2:c.16342_16358delinsC | XP_011537076.1:p.Ala5448GlnfsTer15 | |
| XM_011538776.2:c.16270_16286delinsC | XP_011537078.1:p.Ala5424GlnfsTer15 | |
| XR_001748874.1:n.16483_16499delinsC | ||
| NM_003482.4:c.16306_16322delinsC MANE Select | NP_003473.3:p.Ala5436GlnfsTer15 |