Linked Data
ClinVar Variation Id:
51371
dbSNP Id:
rs80359362
gnomAD v2:
13-32893433-AAGAATT-A
gnomAD v3:
13-32319296-AAGAATT-A
gnomAD v4:
13-32319296-AAGAATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32319300_32319305del , CM000675.2:g.32319300_32319305del | GRCh38 |
| NC_000013.10:g.32893437_32893442del , CM000675.1:g.32893437_32893442del | GRCh37 |
| NC_000013.9:g.31791437_31791442del | NCBI36 |
| NG_012772.3:g.8821_8826del , LRG_293:g.8821_8826del | |
| NG_017006.2:g.1062_1067del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.291_296del | ENSP00000434898.2:p.Glu97_Leu98del | |
| ENST00000528762.2:c.291_296del | ENSP00000433168.2:p.Glu97_Leu98del | |
| ENST00000530893.7:c.-79_-74del | ENSP00000499438.2:n.-79_-74del | |
| ENST00000665585.2:c.291_296del | ENSP00000499570.2:p.Glu97_Leu98del | |
| ENST00000666593.2:c.291_296del | ENSP00000499256.2:p.Glu97_Leu98del | |
| ENST00000700202.2:c.291_296del | ENSP00000514856.2:p.Glu97_Leu98del | |
| ENST00000700200.1:n.191+2773_191+2778del | ||
| ENST00000700201.1:c.291_296del | ENSP00000514855.1:p.Glu97_Leu98del | |
| ENST00000380152.8:c.291_296del MANE Select | ENSP00000369497.3:p.Glu97_Leu98del | |
| ENST00000544455.6:c.291_296del | ENSP00000439902.1:p.Glu97_Leu98del | |
| ENST00000614259.2:c.291_296del | ENSP00000506251.1:p.Glu97_Leu98del | |
| ENST00000680887.1:c.291_296del | ENSP00000505508.1:p.Glu97_Leu98del | |
| ENST00000380152.7:c.291_296del | ENSP00000369497.3:p.Glu97_Leu98del | |
| ENST00000530893.6:n.489_494del | ||
| ENST00000544455.5:c.291_296del | ENSP00000439902.1:p.Glu97_Leu98del | |
| ENST00000614259.1:n.291_296del | ||
| NM_000059.3:c.291_296del , LRG_293t1:c.291_296del | NP_000050.2:p.Glu97_Leu98del | |
| XM_011535203.1:c.291_296del | XP_011533505.1:p.Glu97_Leu98del | |
| XM_011535204.1:c.291_296del | XP_011533506.1:p.Glu97_Leu98del | |
| XM_011535205.1:c.291_296del | XP_011533507.1:p.Glu97_Leu98del | |
| NM_000059.4:c.291_296del MANE Select | NP_000050.3:p.Glu97_Leu98del |