Linked Data
ClinVar Variation Id:
236860
dbSNP Id:
rs878853577
gnomAD v4:
13-32338362-T-TCATC
MyVariant Identifiers:
chr13:g.32912499_32912500insCATC (hg19)
chr13:g.32338362_32338363insCATC (hg38)
PubMed:
PMID:8988179
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32338362_32338363insCATC , CM000675.2:g.32338362_32338363insCATC | GRCh38 |
| NC_000013.10:g.32912499_32912500insCATC , CM000675.1:g.32912499_32912500insCATC | GRCh37 |
| NC_000013.9:g.31810499_31810500insCATC | NCBI36 |
| NG_012772.3:g.27883_27884insCATC , LRG_293:g.27883_27884insCATC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.4007_4008insCATC | ENSP00000434898.2:p.Asp1337IlefsTer2 | |
| ENST00000528762.2:c.4007_4008insCATC | ENSP00000433168.2:p.Asp1337IlefsTer2 | |
| ENST00000530893.7:c.3638_3639insCATC | ENSP00000499438.2:p.Asp1214IlefsTer2 | |
| ENST00000665585.2:c.4007_4008insCATC | ENSP00000499570.2:p.Asp1337IlefsTer2 | |
| ENST00000666593.2:c.4007_4008insCATC | ENSP00000499256.2:p.Asp1337IlefsTer2 | |
| ENST00000700202.2:c.4007_4008insCATC | ENSP00000514856.2:p.Asp1337IlefsTer2 | |
| ENST00000380152.8:c.4007_4008insCATC MANE Select | ENSP00000369497.3:p.Asp1337IlefsTer2 | |
| ENST00000544455.6:c.4007_4008insCATC | ENSP00000439902.1:p.Asp1337IlefsTer2 | |
| ENST00000614259.2:c.4007_4008insCATC | ENSP00000506251.1:p.Asp1337IlefsTer2 | |
| ENST00000680887.1:c.4007_4008insCATC | ENSP00000505508.1:p.Asp1337IlefsTer2 | |
| ENST00000380152.7:c.4007_4008insCATC | ENSP00000369497.3:p.Asp1337IlefsTer2 | |
| ENST00000544455.5:c.4007_4008insCATC | ENSP00000439902.1:p.Asp1337IlefsTer2 | |
| ENST00000614259.1:n.4007_4008insCATC | ||
| NM_000059.3:c.4007_4008insCATC , LRG_293t1:c.4007_4008insCATC | NP_000050.2:p.Asp1337IlefsTer2 | |
| XM_011535203.1:c.4007_4008insCATC | XP_011533505.1:p.Asp1337IlefsTer2 | |
| XM_011535204.1:c.4007_4008insCATC | XP_011533506.1:p.Asp1337IlefsTer2 | |
| XM_011535205.1:c.4007_4008insCATC | XP_011533507.1:p.Asp1337IlefsTer2 | |
| NM_000059.4:c.4007_4008insCATC MANE Select | NP_000050.3:p.Asp1337IlefsTer2 |