Linked Data
ClinVar Variation Id:
125984
dbSNP Id:
rs80359445
ExAC:
13:32890639 T / TTTA
gnomAD v2:
13-32890639-T-TTTA
gnomAD v3:
13-32316502-T-TTTA
gnomAD v4:
13-32316502-T-TTTA
MyVariant Identifiers:
chr13:g.32890641_32890642insATT (hg19)
chr13:g.32890639_32890640insTTA (hg19)
chr13:g.32316504_32316505insATT (hg38)
chr13:g.32316502_32316503insTTA (hg38)
PubMed:
PMID:19941162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32316504_32316505insATT , CM000675.2:g.32316504_32316505insATT | GRCh38 |
| NC_000013.10:g.32890641_32890642insATT , CM000675.1:g.32890641_32890642insATT | GRCh37 |
| NC_000013.9:g.31788641_31788642insATT | NCBI36 |
| NG_012772.3:g.6025_6026insATT , LRG_293:g.6025_6026insATT | |
| NG_017006.1:g.452_453insTAA | |
| NG_017006.2:g.3861_3862insTAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.44_45insATT | ENSP00000434898.2:p.Ile14_Phe15insLeu | |
| ENST00000528762.2:c.44_45insATT | ENSP00000433168.2:p.Ile14_Phe15insLeu | |
| ENST00000530893.7:c.-322_-321insATT | ENSP00000499438.2:n.-322_-321insATT | |
| ENST00000665585.2:c.44_45insATT | ENSP00000499570.2:p.Ile14_Phe15insLeu | |
| ENST00000666593.2:c.44_45insATT | ENSP00000499256.2:p.Ile14_Phe15insLeu | |
| ENST00000700202.2:c.44_45insATT | ENSP00000514856.2:p.Ile14_Phe15insLeu | |
| ENST00000700199.1:n.168_169insATT | ||
| ENST00000700200.1:n.168_169insATT | ||
| ENST00000700201.1:c.44_45insATT | ENSP00000514855.1:p.Ile14_Phe15insLeu | |
| ENST00000380152.8:c.44_45insATT MANE Select | ENSP00000369497.3:p.Ile14_Phe15insLeu | |
| ENST00000544455.6:c.44_45insATT | ENSP00000439902.1:p.Ile14_Phe15insLeu | |
| ENST00000614259.2:c.44_45insATT | ENSP00000506251.1:p.Ile14_Phe15insLeu | |
| ENST00000680887.1:c.44_45insATT | ENSP00000505508.1:p.Ile14_Phe15insLeu | |
| ENST00000380152.7:c.44_45insATT | ENSP00000369497.3:p.Ile14_Phe15insLeu | |
| ENST00000530893.6:n.246_247insATT | ||
| ENST00000544455.5:c.44_45insATT | ENSP00000439902.1:p.Ile14_Phe15insLeu | |
| ENST00000614259.1:n.44_45insATT | ||
| NM_000059.3:c.44_45insATT , LRG_293t1:c.44_45insATT | NP_000050.2:p.Ile14_Phe15insLeu | |
| XM_011535203.1:c.44_45insATT | XP_011533505.1:p.Ile14_Phe15insLeu | |
| XM_011535204.1:c.44_45insATT | XP_011533506.1:p.Ile14_Phe15insLeu | |
| XM_011535205.1:c.44_45insATT | XP_011533507.1:p.Ile14_Phe15insLeu | |
| NM_000059.4:c.44_45insATT MANE Select | NP_000050.3:p.Ile14_Phe15insLeu |