ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.28711916_28711917del , CM000684.2:g.28711916_28711917del | GRCh38 |
| NC_000022.10:g.29107904_29107905del , CM000684.1:g.29107904_29107905del | GRCh37 |
| NC_000022.9:g.27437904_27437905del | NCBI36 |
| NG_008150.1:g.34922_34923del | |
| NG_008150.2:g.34954_34955del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439346.6:c.697_698del | ENSP00000396903.2:n.697_698del | |
| ENST00000711048.1:c.788_789del | ENSP00000518557.1:p.Glu263GlyfsTer8 | |
| ENST00000402731.6:c.587_588del | ENSP00000384835.2:p.Glu196GlyfsTer8 | |
| ENST00000404276.6:c.788_789del MANE Select | ENSP00000385747.1:p.Glu263GlyfsTer8 | |
| ENST00000425190.7:c.125_126del | ENSP00000390244.2:p.Glu42GlyfsTer8 | |
| ENST00000464581.6:c.128_129del | ENSP00000483777.2:p.Glu43GlyfsTer8 | |
| ENST00000648295.1:n.340_341del | ||
| ENST00000649563.1:c.125_126del | ENSP00000496928.1:p.Glu42GlyfsTer8 | |
| ENST00000650281.1:c.788_789del | ENSP00000497000.1:p.Glu263GlyfsTer8 | |
| ENST00000328354.10:c.788_789del | ENSP00000329178.6:p.Glu263GlyfsTer8 | |
| ENST00000348295.7:c.788_789del | ENSP00000329012.5:p.Glu263GlyfsTer8 | |
| ENST00000382580.6:c.917_918del | ENSP00000372023.2:p.Glu306GlyfsTer8 | |
| ENST00000402731.5:c.788_789del | ENSP00000384835.1:p.Glu263GlyfsTer8 | |
| ENST00000403642.5:c.515_516del | ENSP00000384919.1:p.Glu172GlyfsTer8 | |
| ENST00000404276.5:c.788_789del | ENSP00000385747.1:p.Glu263GlyfsTer8 | |
| ENST00000405598.5:c.788_789del | ENSP00000386087.1:p.Glu263GlyfsTer8 | |
| ENST00000416671.5:c.*278_*279del | ENSP00000402225.1:n.*278_*279del | |
| ENST00000417588.5:c.697_698del | ENSP00000412901.1:n.697_698del | |
| ENST00000425190.6:c.125_126del | ENSP00000390244.1:p.Glu42GlyfsTer8 | |
| ENST00000433028.6:c.*513_*514del | ENSP00000403659.1:n.*513_*514del | |
| ENST00000433728.5:c.788_789del | ENSP00000404400.1:p.Glu263GlyfsTer8 | |
| ENST00000434810.5:c.19_20del | ||
| ENST00000439200.5:c.881_882del | ENSP00000408065.1:p.Glu294GlyfsTer? | |
| ENST00000439346.5:c.259_260del | ENSP00000396903.1:n.259_260del | |
| ENST00000447421.5:c.587_588del | ENSP00000397478.2:p.Glu196GlyfsTer8 | |
| ENST00000448511.5:c.678_679del | ENSP00000404567.1:n.678_679del | |
| ENST00000456369.5:c.43_44del | ||
| ENST00000464581.5:c.128_129del | ENSP00000483777.1:p.Glu43GlyfsTer8 | |
| ENST00000491919.5:n.345_346del | ||
| NM_001005735.1:c.917_918del | NP_001005735.1:p.Glu306GlyfsTer8 | |
| NM_001257387.1:c.125_126del | NP_001244316.1:p.Glu42GlyfsTer8 | |
| NM_007194.3:c.788_789del | NP_009125.1:p.Glu263GlyfsTer8 | |
| NM_145862.2:c.788_789del | NP_665861.1:p.Glu263GlyfsTer8 | |
| XM_006724114.2:c.308_309del | XP_006724177.1:p.Glu103GlyfsTer8 | |
| XM_006724116.2:c.245_246del | XP_006724179.2:p.Glu82GlyfsTer8 | |
| XM_011529839.1:c.947_948del | XP_011528141.1:p.Glu316GlyfsTer8 | |
| XM_011529840.1:c.947_948del | XP_011528142.1:p.Glu316GlyfsTer8 | |
| XM_011529841.1:c.716_717del | XP_011528143.1:p.Glu239GlyfsTer8 | |
| XM_011529842.1:c.617_618del | XP_011528144.1:p.Glu206GlyfsTer8 | |
| XM_011529843.1:c.587_588del | XP_011528145.1:p.Glu196GlyfsTer8 | |
| XM_011529844.1:c.947_948del | XP_011528146.1:p.Glu316GlyfsTer8 | |
| XM_011529845.1:c.125_126del | XP_011528147.1:p.Glu42GlyfsTer8 | |
| XR_937805.1:n.1009_1010del | ||
| XR_937806.1:n.1004_1005del | ||
| XR_937807.1:n.1004_1005del | ||
| NM_001349956.1:c.587_588del | NP_001336885.1:p.Glu196GlyfsTer8 | |
| NM_007194.4:c.788_789del MANE Select | NP_009125.1:p.Glu263GlyfsTer8 | |
| XM_006724114.3:c.341_342del | XP_006724177.2:p.Glu114GlyfsTer8 | |
| XM_011529839.2:c.947_948del | XP_011528141.1:p.Glu316GlyfsTer8 | |
| XM_011529840.3:c.947_948del | XP_011528142.1:p.Glu316GlyfsTer8 | |
| XM_011529842.2:c.617_618del | XP_011528144.1:p.Glu206GlyfsTer8 | |
| XM_011529844.2:c.947_948del | XP_011528146.1:p.Glu316GlyfsTer8 | |
| XM_011529845.2:c.125_126del | XP_011528147.1:p.Glu42GlyfsTer8 | |
| XM_017028560.1:c.911_912del | XP_016884049.1:p.Glu304GlyfsTer8 | |
| XM_017028561.2:c.125_126del | XP_016884050.1:p.Glu42GlyfsTer8 | |
| XM_024452148.1:c.818_819del | XP_024307916.1:p.Glu273GlyfsTer8 | |
| XM_024452149.1:c.818_819del | XP_024307917.1:p.Glu273GlyfsTer8 | |
| XR_937805.2:n.1020_1021del | ||
| XR_937806.2:n.1020_1021del | ||
| XR_937807.2:n.1020_1021del | ||
| NM_001005735.2:c.917_918del | NP_001005735.1:p.Glu306GlyfsTer8 | |
| NM_001257387.2:c.125_126del | NP_001244316.1:p.Glu42GlyfsTer8 | |
| NM_001349956.2:c.587_588del | NP_001336885.1:p.Glu196GlyfsTer8 |