Linked Data
ClinVar Variation Id:
9320
ClinVar RCV Id:
RCV000009905
RCV000044728
RCV000131120
RCV000160297
RCV000461157
RCV000735574
RCV001310125
RCV002496315
RCV003162224
dbSNP Id:
rs80359530
gnomAD v2:
13-32914209-ACT-A
gnomAD v4:
13-32340072-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32340077_32340078del , CM000675.2:g.32340077_32340078del | GRCh38 |
| NC_000013.10:g.32914214_32914215del , CM000675.1:g.32914214_32914215del | GRCh37 |
| NC_000013.9:g.31812214_31812215del | NCBI36 |
| NG_012772.3:g.29598_29599del , LRG_293:g.29598_29599del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.5722_5723del | ENSP00000434898.2:p.Leu1908ArgfsTer2 | |
| ENST00000528762.2:c.5722_5723del | ENSP00000433168.2:p.Leu1908ArgfsTer2 | |
| ENST00000530893.7:c.5353_5354del | ENSP00000499438.2:p.Leu1785ArgfsTer2 | |
| ENST00000665585.2:c.5722_5723del | ENSP00000499570.2:p.Leu1908ArgfsTer2 | |
| ENST00000666593.2:c.5722_5723del | ENSP00000499256.2:p.Leu1908ArgfsTer2 | |
| ENST00000700202.2:c.5722_5723del | ENSP00000514856.2:p.Leu1908ArgfsTer2 | |
| ENST00000380152.8:c.5722_5723del MANE Select | ENSP00000369497.3:p.Leu1908ArgfsTer2 | |
| ENST00000544455.6:c.5722_5723del | ENSP00000439902.1:p.Leu1908ArgfsTer2 | |
| ENST00000614259.2:c.5722_5723del | ENSP00000506251.1:p.Leu1908ArgfsTer2 | |
| ENST00000680887.1:c.5722_5723del | ENSP00000505508.1:p.Leu1908ArgfsTer2 | |
| ENST00000380152.7:c.5722_5723del | ENSP00000369497.3:p.Leu1908ArgfsTer2 | |
| ENST00000544455.5:c.5722_5723del | ENSP00000439902.1:p.Leu1908ArgfsTer2 | |
| ENST00000614259.1:n.5722_5723del | ||
| NM_000059.3:c.5722_5723del , LRG_293t1:c.5722_5723del | NP_000050.2:p.Leu1908ArgfsTer2 | |
| XM_011535203.1:c.5722_5723del | XP_011533505.1:p.Leu1908ArgfsTer2 | |
| XM_011535204.1:c.5722_5723del | XP_011533506.1:p.Leu1908ArgfsTer2 | |
| XM_011535205.1:c.5722_5723del | XP_011533507.1:p.Leu1908ArgfsTer2 | |
| NM_000059.4:c.5722_5723del MANE Select | NP_000050.3:p.Leu1908ArgfsTer2 |