Linked Data
ClinVar Variation Id:
37861
ClinVar RCV Id:
RCV000031442
RCV000044285
RCV000131324
RCV000200063
RCV000859082
RCV001353700
RCV001843463
RCV003492311
RCV003607205
RCV004541037
dbSNP Id:
rs80359406
ExAC:
13:32912345 GAAA / G
gnomAD v2:
13-32912345-GAAA-G
gnomAD v3:
13-32338208-GAAA-G
gnomAD v4:
13-32338208-GAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32338213_32338215del , CM000675.2:g.32338213_32338215del | GRCh38 |
| NC_000013.10:g.32912350_32912352del , CM000675.1:g.32912350_32912352del | GRCh37 |
| NC_000013.9:g.31810350_31810352del | NCBI36 |
| NG_012772.3:g.27734_27736del , LRG_293:g.27734_27736del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.3858_3860del | ENSP00000434898.2:p.Lys1286del | |
| ENST00000528762.2:c.3858_3860del | ENSP00000433168.2:p.Lys1286del | |
| ENST00000530893.7:c.3489_3491del | ENSP00000499438.2:p.Lys1163del | |
| ENST00000665585.2:c.3858_3860del | ENSP00000499570.2:p.Lys1286del | |
| ENST00000666593.2:c.3858_3860del | ENSP00000499256.2:p.Lys1286del | |
| ENST00000700202.2:c.3858_3860del | ENSP00000514856.2:p.Lys1286del | |
| ENST00000380152.8:c.3858_3860del MANE Select | ENSP00000369497.3:p.Lys1286del | |
| ENST00000544455.6:c.3858_3860del | ENSP00000439902.1:p.Lys1286del | |
| ENST00000614259.2:c.3858_3860del | ENSP00000506251.1:p.Lys1286del | |
| ENST00000680887.1:c.3858_3860del | ENSP00000505508.1:p.Lys1286del | |
| ENST00000380152.7:c.3858_3860del | ENSP00000369497.3:p.Lys1286del | |
| ENST00000544455.5:c.3858_3860del | ENSP00000439902.1:p.Lys1286del | |
| ENST00000614259.1:n.3858_3860del | ||
| NM_000059.3:c.3858_3860del , LRG_293t1:c.3858_3860del | NP_000050.2:p.Lys1286del | |
| XM_011535203.1:c.3858_3860del | XP_011533505.1:p.Lys1286del | |
| XM_011535204.1:c.3858_3860del | XP_011533506.1:p.Lys1286del | |
| XM_011535205.1:c.3858_3860del | XP_011533507.1:p.Lys1286del | |
| NM_000059.4:c.3858_3860del MANE Select | NP_000050.3:p.Lys1286del |