Linked Data
ClinVar Variation Id:
125956
dbSNP Id:
rs276174800
ExAC:
13:32890550 GT / G
gnomAD v2:
13-32890550-GT-G
gnomAD v3:
13-32316413-GT-G
gnomAD v4:
13-32316413-GT-G
MyVariant Identifiers:
chr13:g.32890554del (hg19)
chr13:g.32890551del (hg19)
chr13:g.32316417del (hg38)
chr13:g.32316414del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32316417del , CM000675.2:g.32316417del | GRCh38 |
| NC_000013.10:g.32890554del , CM000675.1:g.32890554del | GRCh37 |
| NC_000013.9:g.31788554del | NCBI36 |
| NG_012772.3:g.5938del , LRG_293:g.5938del | |
| NG_017006.1:g.541del | |
| NG_017006.2:g.3950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.-39-5del | ENSP00000434898.2:n.-39-5del | |
| ENST00000528762.2:c.-39-5del | ENSP00000433168.2:n.-39-5del | |
| ENST00000530893.7:c.-404-5del | ENSP00000499438.2:n.-404-5del | |
| ENST00000665585.2:c.-39-5del | ENSP00000499570.2:n.-39-5del | |
| ENST00000666593.2:c.-39-5del | ENSP00000499256.2:n.-39-5del | |
| ENST00000700202.2:c.-39-5del | ENSP00000514856.2:n.-39-5del | |
| ENST00000700199.1:n.86-5del | ||
| ENST00000700200.1:n.86-5del | ||
| ENST00000700201.1:c.-39-5del | ENSP00000514855.1:n.-39-5del | |
| ENST00000380152.8:c.-39-5del MANE Select | ENSP00000369497.3:n.-39-5del | |
| ENST00000544455.6:c.-39-5del | ENSP00000439902.1:n.-39-5del | |
| ENST00000680887.1:c.-39-5del | ENSP00000505508.1:n.-39-5del | |
| ENST00000380152.7:c.-39-5del | ENSP00000369497.3:n.-39-5del | |
| ENST00000530893.6:n.164-5del | ||
| ENST00000544455.5:c.-39-5del | ENSP00000439902.1:n.-39-5del | |
| NM_000059.3:c.-39-5del , LRG_293t1:c.-39-5del | NP_000050.2:n.-39-5del | |
| XM_011535203.1:c.-39-5del | XP_011533505.1:n.-39-5del | |
| XM_011535204.1:c.-39-5del | XP_011533506.1:n.-39-5del | |
| XM_011535205.1:c.-39-5del | XP_011533507.1:n.-39-5del | |
| NM_000059.4:c.-39-5del MANE Select | NP_000050.3:n.-39-5del |