Linked Data
ClinVar Variation Id:
267129
ClinVar RCV Id:
RCV000256606
dbSNP Id:
rs886040811
MyVariant Identifiers:
chr13:g.32953952_32953953insTCTA (hg19)
chr13:g.32379815_32379816insTCTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379815_32379816insTCTA , CM000675.2:g.32379815_32379816insTCTA | GRCh38 |
| NC_000013.10:g.32953952_32953953insTCTA , CM000675.1:g.32953952_32953953insTCTA | GRCh37 |
| NC_000013.9:g.31851952_31851953insTCTA | NCBI36 |
| NG_012772.3:g.69336_69337insTCTA , LRG_293:g.69336_69337insTCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9019_9020insTCTA | ENSP00000434898.2:p.Arg3007IlefsTer2 | |
| ENST00000528762.2:c.*386_*387insTCTA | ENSP00000433168.2:n.*386_*387insTCTA | |
| ENST00000530893.7:c.8650_8651insTCTA | ENSP00000499438.2:p.Arg2884IlefsTer2 | |
| ENST00000665585.2:c.*581_*582insTCTA | ENSP00000499570.2:n.*581_*582insTCTA | |
| ENST00000666593.2:c.9019_9020insTCTA | ENSP00000499256.2:p.Arg3007IlefsTer2 | |
| ENST00000700202.2:c.8968_8969insTCTA | ENSP00000514856.2:p.Arg2990IlefsTer2 | |
| ENST00000700202.1:c.1435_1436insTCTA | ENSP00000514856.1:p.Arg479IlefsTer2 | |
| ENST00000700203.1:n.1146_1147insTCTA | ||
| ENST00000380152.8:c.9019_9020insTCTA MANE Select | ENSP00000369497.3:p.Arg3007IlefsTer2 | |
| ENST00000544455.6:c.9019_9020insTCTA | ENSP00000439902.1:p.Arg3007IlefsTer2 | |
| ENST00000614259.2:c.9027_9028insTCTA | ENSP00000506251.1:n.9027_9028insTCTA | |
| ENST00000665585.1:c.1897_1898insTCTA | ||
| ENST00000680887.1:c.9019_9020insTCTA | ENSP00000505508.1:p.Arg3007IlefsTer2 | |
| ENST00000380152.7:c.9019_9020insTCTA | ENSP00000369497.3:p.Arg3007IlefsTer2 | |
| ENST00000544455.5:c.9019_9020insTCTA | ENSP00000439902.1:p.Arg3007IlefsTer2 | |
| NM_000059.3:c.9019_9020insTCTA , LRG_293t1:c.9019_9020insTCTA | NP_000050.2:p.Arg3007IlefsTer2 | |
| XM_011535203.1:c.9019_9020insTCTA | XP_011533505.1:p.Arg3007IlefsTer2 | |
| XM_011535204.1:c.8923_8924insTCTA | XP_011533506.1:p.Arg2975IlefsTer2 | |
| XM_011535205.1:c.*57_*58insTCTA | XP_011533507.1:n.*57_*58insTCTA | |
| NM_000059.4:c.9019_9020insTCTA MANE Select | NP_000050.3:p.Arg3007IlefsTer2 |