Linked Data
ClinVar Variation Id:
51372
ClinVar RCV Id:
RCV000120311
RCV000130805
RCV000113115
RCV000195304
RCV000586739
RCV001353790
RCV003149673
dbSNP Id:
rs276174831
MyVariant Identifiers:
chr13:g.32911418_32911419delinsAT (hg19)
chr13:g.32337281_32337282delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32337281_32337282delinsAT , CM000675.2:g.32337281_32337282delinsAT | GRCh38 |
| NC_000013.10:g.32911418_32911419delinsAT , CM000675.1:g.32911418_32911419delinsAT | GRCh37 |
| NC_000013.9:g.31809418_31809419delinsAT | NCBI36 |
| NG_012772.3:g.26802_26803delinsAT , LRG_293:g.26802_26803delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.2926_2927delinsAT | ENSP00000434898.2:p.Ser976Ile | |
| ENST00000528762.2:c.2926_2927delinsAT | ENSP00000433168.2:p.Ser976Ile | |
| ENST00000530893.7:c.2557_2558delinsAT | ENSP00000499438.2:p.Ser853Ile | |
| ENST00000665585.2:c.2926_2927delinsAT | ENSP00000499570.2:p.Ser976Ile | |
| ENST00000666593.2:c.2926_2927delinsAT | ENSP00000499256.2:p.Ser976Ile | |
| ENST00000700202.2:c.2926_2927delinsAT | ENSP00000514856.2:p.Ser976Ile | |
| ENST00000380152.8:c.2926_2927delinsAT MANE Select | ENSP00000369497.3:p.Ser976Ile | |
| ENST00000544455.6:c.2926_2927delinsAT | ENSP00000439902.1:p.Ser976Ile | |
| ENST00000614259.2:c.2926_2927delinsAT | ENSP00000506251.1:p.Ser976Ile | |
| ENST00000680887.1:c.2926_2927delinsAT | ENSP00000505508.1:p.Ser976Ile | |
| ENST00000380152.7:c.2926_2927delinsAT | ENSP00000369497.3:p.Ser976Ile | |
| ENST00000544455.5:c.2926_2927delinsAT | ENSP00000439902.1:p.Ser976Ile | |
| ENST00000614259.1:n.2926_2927delinsAT | ||
| NM_000059.3:c.2926_2927delinsAT , LRG_293t1:c.2926_2927delinsAT | NP_000050.2:p.Ser976Ile | |
| XM_011535203.1:c.2926_2927delinsAT | XP_011533505.1:p.Ser976Ile | |
| XM_011535204.1:c.2926_2927delinsAT | XP_011533506.1:p.Ser976Ile | |
| XM_011535205.1:c.2926_2927delinsAT | XP_011533507.1:p.Ser976Ile | |
| NM_000059.4:c.2926_2927delinsAT MANE Select | NP_000050.3:p.Ser976Ile |