Linked Data
ClinVar Variation Id:
548377
ClinVar RCV Id:
RCV000661639
dbSNP Id:
rs1555281068
MyVariant Identifiers:
chr13:g.32900687_32900688insAACG (hg19)
chr13:g.32326550_32326551insAACG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32326550_32326551insAACG , CM000675.2:g.32326550_32326551insAACG | GRCh38 |
| NC_000013.10:g.32900687_32900688insAACG , CM000675.1:g.32900687_32900688insAACG | GRCh37 |
| NC_000013.9:g.31798687_31798688insAACG | NCBI36 |
| NG_012772.3:g.16071_16072insAACG , LRG_293:g.16071_16072insAACG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.568_569insAACG | ENSP00000434898.2:p.Pro190GlnfsTer3 | |
| ENST00000528762.2:c.568_569insAACG | ENSP00000433168.2:p.Pro190GlnfsTer3 | |
| ENST00000530893.7:c.199_200insAACG | ENSP00000499438.2:p.Pro67GlnfsTer3 | |
| ENST00000665585.2:c.568_569insAACG | ENSP00000499570.2:p.Pro190GlnfsTer3 | |
| ENST00000666593.2:c.568_569insAACG | ENSP00000499256.2:p.Pro190GlnfsTer3 | |
| ENST00000700202.2:c.568_569insAACG | ENSP00000514856.2:p.Pro190GlnfsTer3 | |
| ENST00000700200.1:n.439_440insAACG | ||
| ENST00000700201.1:c.*347_*348insAACG | ENSP00000514855.1:n.*347_*348insAACG | |
| ENST00000380152.8:c.568_569insAACG MANE Select | ENSP00000369497.3:p.Pro190GlnfsTer3 | |
| ENST00000544455.6:c.568_569insAACG | ENSP00000439902.1:p.Pro190GlnfsTer3 | |
| ENST00000614259.2:c.568_569insAACG | ENSP00000506251.1:p.Pro190GlnfsTer3 | |
| ENST00000680887.1:c.568_569insAACG | ENSP00000505508.1:p.Pro190GlnfsTer3 | |
| ENST00000380152.7:c.568_569insAACG | ENSP00000369497.3:p.Pro190GlnfsTer3 | |
| ENST00000530893.6:n.766_767insAACG | ||
| ENST00000544455.5:c.568_569insAACG | ENSP00000439902.1:p.Pro190GlnfsTer3 | |
| ENST00000614259.1:n.568_569insAACG | ||
| NM_000059.3:c.568_569insAACG , LRG_293t1:c.568_569insAACG | NP_000050.2:p.Pro190GlnfsTer3 | |
| XM_011535203.1:c.568_569insAACG | XP_011533505.1:p.Pro190GlnfsTer3 | |
| XM_011535204.1:c.568_569insAACG | XP_011533506.1:p.Pro190GlnfsTer3 | |
| XM_011535205.1:c.568_569insAACG | XP_011533507.1:p.Pro190GlnfsTer3 | |
| NM_000059.4:c.568_569insAACG MANE Select | NP_000050.3:p.Pro190GlnfsTer3 |