Linked Data
ClinVar Variation Id:
38126
dbSNP Id:
rs80359686
gnomAD v4:
13-32362626-GCCTTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32362630_32362634del , CM000675.2:g.32362630_32362634del | GRCh38 |
| NC_000013.10:g.32936767_32936771del , CM000675.1:g.32936767_32936771del | GRCh37 |
| NC_000013.9:g.31834767_31834771del | NCBI36 |
| NG_012772.3:g.52151_52155del , LRG_293:g.52151_52155del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.7913_7917del | ENSP00000434898.2:p.Phe2638Ter | |
| ENST00000528762.2:c.7913_7917del | ENSP00000433168.2:p.Phe2638Ter | |
| ENST00000530893.7:c.7544_7548del | ENSP00000499438.2:p.Phe2515Ter | |
| ENST00000665585.2:c.7913_7917del | ENSP00000499570.2:p.Phe2638Ter | |
| ENST00000666593.2:c.7913_7917del | ENSP00000499256.2:p.Phe2638Ter | |
| ENST00000700202.2:c.7913_7917del | ENSP00000514856.2:p.Phe2638Ter | |
| ENST00000700202.1:c.380_384del | ENSP00000514856.1:p.Phe127Ter | |
| ENST00000380152.8:c.7913_7917del MANE Select | ENSP00000369497.3:p.Phe2638Ter | |
| ENST00000544455.6:c.7913_7917del | ENSP00000439902.1:p.Phe2638Ter | |
| ENST00000614259.2:c.7921_7925del | ENSP00000506251.1:p.Phe2641LysfsTer? | |
| ENST00000665585.1:c.478_482del | ||
| ENST00000680887.1:c.7913_7917del | ENSP00000505508.1:p.Phe2638Ter | |
| ENST00000380152.7:c.7913_7917del | ENSP00000369497.3:p.Phe2638Ter | |
| ENST00000544455.5:c.7913_7917del | ENSP00000439902.1:p.Phe2638Ter | |
| ENST00000614259.1:n.7921_7925del | ||
| NM_000059.3:c.7913_7917del , LRG_293t1:c.7913_7917del | NP_000050.2:p.Phe2638Ter | |
| XM_011535203.1:c.7913_7917del | XP_011533505.1:p.Phe2638Ter | |
| XM_011535204.1:c.7817_7821del | XP_011533506.1:p.Phe2606Ter | |
| XM_011535205.1:c.7913_7917del | XP_011533507.1:p.Phe2638Ter | |
| NM_000059.4:c.7913_7917del MANE Select | NP_000050.3:p.Phe2638Ter |