Linked Data
ClinVar Variation Id:
125926
ClinVar RCV Id:
RCV000122897
RCV000112839
RCV000129586
RCV000496401
RCV000769707
RCV000590484
RCV001647083
RCV004528788
dbSNP Id:
rs276174803
MyVariant Identifiers:
chr13:g.32972745delinsGAATTATATCT (hg19)
chr13:g.32398608delinsGAATTATATCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398608delinsGAATTATATCT , CM000675.2:g.32398608delinsGAATTATATCT | GRCh38 |
| NC_000013.10:g.32972745delinsGAATTATATCT , CM000675.1:g.32972745delinsGAATTATATCT | GRCh37 |
| NC_000013.9:g.31870745delinsGAATTATATCT | NCBI36 |
| NG_012772.3:g.88129delinsGAATTATATCT , LRG_293:g.88129delinsGAATTATATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*618delinsGAATTATATCT | ENSP00000434898.2:n.*618delinsGAATTATATCT | |
| ENST00000528762.2:c.*1462delinsGAATTATATCT | ENSP00000433168.2:n.*1462delinsGAATTATATCT | |
| ENST00000530893.7:c.9726delinsGAATTATATCT | ENSP00000499438.2:p.Ser3243AsnfsTer4 | |
| ENST00000665585.2:c.*1657delinsGAATTATATCT | ENSP00000499570.2:n.*1657delinsGAATTATATCT | |
| ENST00000700202.2:c.10044delinsGAATTATATCT | ENSP00000514856.2:p.Ser3349AsnfsTer4 | |
| ENST00000700202.1:c.2511delinsGAATTATATCT | ENSP00000514856.1:p.Ser838AsnfsTer4 | |
| ENST00000700203.1:n.2222delinsGAATTATATCT | ||
| ENST00000380152.8:c.10095delinsGAATTATATCT MANE Select | ENSP00000369497.3:p.Ser3366AsnfsTer4 | |
| ENST00000544455.6:c.10095delinsGAATTATATCT | ENSP00000439902.1:p.Ser3366AsnfsTer4 | |
| ENST00000614259.2:c.10103delinsGAATTATATCT | ENSP00000506251.1:n.10103delinsGAATTATATCT | |
| ENST00000680887.1:c.10095delinsGAATTATATCT | ENSP00000505508.1:p.Ser3366AsnfsTer4 | |
| ENST00000380152.7:c.10095delinsGAATTATATCT | ENSP00000369497.3:p.Ser3366AsnfsTer4 | |
| ENST00000544455.5:c.10095delinsGAATTATATCT | ENSP00000439902.1:p.Ser3366AsnfsTer4 | |
| NM_000059.3:c.10095delinsGAATTATATCT , LRG_293t1:c.10095delinsGAATTATATCT | NP_000050.2:p.Ser3366AsnfsTer4 | |
| XM_011535203.1:c.10095delinsGAATTATATCT | XP_011533505.1:p.Ser3366AsnfsTer4 | |
| XM_011535204.1:c.9999delinsGAATTATATCT | XP_011533506.1:p.Ser3334AsnfsTer4 | |
| NM_000059.4:c.10095delinsGAATTATATCT MANE Select | NP_000050.3:p.Ser3366AsnfsTer4 |