Linked Data
ClinVar Variation Id:
51773
ClinVar RCV Id:
RCV001353635
dbSNP Id:
rs276174853
ExAC:
13:32913603 GAATA / G
gnomAD v3:
13-32339466-GAATA-G
gnomAD v4:
13-32339466-GAATA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32339471_32339474del , CM000675.2:g.32339471_32339474del | GRCh38 |
| NC_000013.10:g.32913608_32913611del , CM000675.1:g.32913608_32913611del | GRCh37 |
| NC_000013.9:g.31811608_31811611del | NCBI36 |
| NG_012772.3:g.28992_28995del , LRG_293:g.28992_28995del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.5116_5119del | ENSP00000434898.2:p.Asn1706LeufsTer5 | |
| ENST00000528762.2:c.5116_5119del | ENSP00000433168.2:p.Asn1706LeufsTer5 | |
| ENST00000530893.7:c.4747_4750del | ENSP00000499438.2:p.Asn1583LeufsTer5 | |
| ENST00000665585.2:c.5116_5119del | ENSP00000499570.2:p.Asn1706LeufsTer5 | |
| ENST00000666593.2:c.5116_5119del | ENSP00000499256.2:p.Asn1706LeufsTer5 | |
| ENST00000700202.2:c.5116_5119del | ENSP00000514856.2:p.Asn1706LeufsTer5 | |
| ENST00000380152.8:c.5116_5119del MANE Select | ENSP00000369497.3:p.Asn1706LeufsTer5 | |
| ENST00000544455.6:c.5116_5119del | ENSP00000439902.1:p.Asn1706LeufsTer5 | |
| ENST00000614259.2:c.5116_5119del | ENSP00000506251.1:p.Asn1706LeufsTer5 | |
| ENST00000680887.1:c.5116_5119del | ENSP00000505508.1:p.Asn1706LeufsTer5 | |
| ENST00000380152.7:c.5116_5119del | ENSP00000369497.3:p.Asn1706LeufsTer5 | |
| ENST00000544455.5:c.5116_5119del | ENSP00000439902.1:p.Asn1706LeufsTer5 | |
| ENST00000614259.1:n.5116_5119del | ||
| NM_000059.3:c.5116_5119del , LRG_293t1:c.5116_5119del | NP_000050.2:p.Asn1706LeufsTer5 | |
| XM_011535203.1:c.5116_5119del | XP_011533505.1:p.Asn1706LeufsTer5 | |
| XM_011535204.1:c.5116_5119del | XP_011533506.1:p.Asn1706LeufsTer5 | |
| XM_011535205.1:c.5116_5119del | XP_011533507.1:p.Asn1706LeufsTer5 | |
| NM_000059.4:c.5116_5119del MANE Select | NP_000050.3:p.Asn1706LeufsTer5 |