Linked Data
ClinVar Variation Id:
37960
ClinVar RCV Id:
RCV000031541
RCV000044642
RCV000131977
RCV000195402
RCV000785592
RCV001310158
RCV001798046
RCV001554264
RCV003473186
dbSNP Id:
rs80359507
gnomAD v4:
13-32339699-C-CA
MyVariant Identifiers:
chr13:g.32913843dupA (hg19)
chr13:g.32913843_32913844insA (hg19)
chr13:g.32339706dupA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32339706dup , CM000675.2:g.32339706dup | GRCh38 |
| NC_000013.10:g.32913843dup , CM000675.1:g.32913843dup | GRCh37 |
| NC_000013.9:g.31811843dup | NCBI36 |
| NG_012772.3:g.29227dup , LRG_293:g.29227dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.5351dup | ENSP00000434898.2:p.Asn1784LysfsTer3 | |
| ENST00000528762.2:c.5351dup | ENSP00000433168.2:p.Asn1784LysfsTer3 | |
| ENST00000530893.7:c.4982dup | ENSP00000499438.2:p.Asn1661LysfsTer3 | |
| ENST00000665585.2:c.5351dup | ENSP00000499570.2:p.Asn1784LysfsTer3 | |
| ENST00000666593.2:c.5351dup | ENSP00000499256.2:p.Asn1784LysfsTer3 | |
| ENST00000700202.2:c.5351dup | ENSP00000514856.2:p.Asn1784LysfsTer3 | |
| ENST00000380152.8:c.5351dup MANE Select | ENSP00000369497.3:p.Asn1784LysfsTer3 | |
| ENST00000544455.6:c.5351dup | ENSP00000439902.1:p.Asn1784LysfsTer3 | |
| ENST00000614259.2:c.5351dup | ENSP00000506251.1:p.Asn1784LysfsTer3 | |
| ENST00000680887.1:c.5351dup | ENSP00000505508.1:p.Asn1784LysfsTer3 | |
| ENST00000380152.7:c.5351dup | ENSP00000369497.3:p.Asn1784LysfsTer3 | |
| ENST00000544455.5:c.5351dup | ENSP00000439902.1:p.Asn1784LysfsTer3 | |
| ENST00000614259.1:n.5351dup | ||
| NM_000059.3:c.5351dup , LRG_293t1:c.5351dup | NP_000050.2:p.Asn1784LysfsTer3 | |
| XM_011535203.1:c.5351dup | XP_011533505.1:p.Asn1784LysfsTer3 | |
| XM_011535204.1:c.5351dup | XP_011533506.1:p.Asn1784LysfsTer3 | |
| XM_011535205.1:c.5351dup | XP_011533507.1:p.Asn1784LysfsTer3 | |
| NM_000059.4:c.5351dup MANE Select | NP_000050.3:p.Asn1784LysfsTer3 |