Linked Data
ClinVar Variation Id:
38105
dbSNP Id:
rs80359664
gnomAD v2:
13-32930690-ATC-A
gnomAD v3:
13-32356553-ATC-A
gnomAD v4:
13-32356553-ATC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32356559_32356560del , CM000675.2:g.32356559_32356560del | GRCh38 |
| NC_000013.10:g.32930696_32930697del , CM000675.1:g.32930696_32930697del | GRCh37 |
| NC_000013.9:g.31828696_31828697del | NCBI36 |
| NG_012772.3:g.46080_46081del , LRG_293:g.46080_46081del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.7567_7568del | ENSP00000434898.2:p.Leu2523GlufsTer15 | |
| ENST00000528762.2:c.7567_7568del | ENSP00000433168.2:p.Leu2523GlufsTer15 | |
| ENST00000530893.7:c.7198_7199del | ENSP00000499438.2:p.Leu2400GlufsTer15 | |
| ENST00000665585.2:c.7567_7568del | ENSP00000499570.2:p.Leu2523GlufsTer15 | |
| ENST00000666593.2:c.7567_7568del | ENSP00000499256.2:p.Leu2523GlufsTer15 | |
| ENST00000700202.2:c.7567_7568del | ENSP00000514856.2:p.Leu2523GlufsTer15 | |
| ENST00000700202.1:c.34_35del | ENSP00000514856.1:p.Leu12GlufsTer15 | |
| ENST00000380152.8:c.7567_7568del MANE Select | ENSP00000369497.3:p.Leu2523GlufsTer15 | |
| ENST00000544455.6:c.7567_7568del | ENSP00000439902.1:p.Leu2523GlufsTer15 | |
| ENST00000614259.2:c.7567_7568del | ENSP00000506251.1:p.Leu2523GlufsTer15 | |
| ENST00000665585.1:c.132_133del | ||
| ENST00000680887.1:c.7567_7568del | ENSP00000505508.1:p.Leu2523GlufsTer15 | |
| ENST00000380152.7:c.7567_7568del | ENSP00000369497.3:p.Leu2523GlufsTer15 | |
| ENST00000544455.5:c.7567_7568del | ENSP00000439902.1:p.Leu2523GlufsTer15 | |
| ENST00000614259.1:n.7567_7568del | ||
| NM_000059.3:c.7567_7568del , LRG_293t1:c.7567_7568del | NP_000050.2:p.Leu2523GlufsTer15 | |
| XM_011535203.1:c.7567_7568del | XP_011533505.1:p.Leu2523GlufsTer15 | |
| XM_011535204.1:c.7471_7472del | XP_011533506.1:p.Leu2491GlufsTer15 | |
| XM_011535205.1:c.7567_7568del | XP_011533507.1:p.Leu2523GlufsTer15 | |
| NM_000059.4:c.7567_7568del MANE Select | NP_000050.3:p.Leu2523GlufsTer15 |