Linked Data
ClinVar Variation Id:
56410
ClinVar RCV Id:
RCV000049823
dbSNP Id:
rs386833854
gnomAD v2:
8-145736840-CCG-C
gnomAD v4:
8-144511457-CCG-C
PubMed:
PMID:18716613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144511458_144511459del , CM000670.2:g.144511458_144511459del | GRCh38 |
| NC_000008.10:g.145736841_145736842del , CM000670.1:g.145736841_145736842del | GRCh37 |
| NC_000008.9:g.145707649_145707650del | NCBI36 |
| NG_016430.1:g.11368_11369del | |
| NG_016430.2:g.11368_11369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.3599_3600del MANE Select | ENSP00000482313.2:p.Thr1200ArgfsTer26 | |
| ENST00000301323.7:c.616_617del | ||
| ENST00000529424.2:n.255_256del | ||
| ENST00000531875.2:c.854_855del | ENSP00000477910.1:p.Thr285ArgfsTer26 | |
| ENST00000617875.4:c.3599_3600del | ENSP00000482313.1:p.Thr1200ArgfsTer26 | |
| ENST00000621189.4:c.2528_2529del | ENSP00000483145.1:p.Thr843ArgfsTer26 | |
| NM_004260.3:c.3599_3600del | NP_004251.3:p.Thr1200ArgfsTer26 | |
| XM_011517380.1:c.3674_3675del | XP_011515682.1:p.Thr1225ArgfsTer26 | |
| XM_011517381.1:c.3578_3579del | XP_011515683.1:p.Thr1193ArgfsTer26 | |
| XM_011517382.1:c.3482_3483del | XP_011515684.1:p.Thr1161ArgfsTer26 | |
| XM_011517383.1:c.3476_3477del | XP_011515685.1:p.Thr1159ArgfsTer26 | |
| XM_011517384.1:c.3401_3402del | XP_011515686.1:p.Thr1134ArgfsTer26 | |
| XM_011517385.1:c.2537_2538del | XP_011515687.1:p.Thr846ArgfsTer26 | |
| XR_928366.1:n.3558_3559del | ||
| XR_928367.1:n.3654_3655del | ||
| XR_928368.1:n.3547_3548del | ||
| XM_011517384.3:c.3401_3402del | XP_011515686.1:p.Thr1134ArgfsTer26 | |
| XM_017013991.2:c.3885_3886del | XP_016869480.1:p.His1295GlnfsTer19 | |
| XM_017013992.2:c.3810_3811del | XP_016869481.1:p.His1270GlnfsTer19 | |
| XM_017013993.2:c.3795_3796del | XP_016869482.1:p.His1265GlnfsTer19 | |
| XM_017013994.2:c.3789_3790del | XP_016869483.1:p.His1263GlnfsTer19 | |
| XM_017013995.2:c.3720_3721del | XP_016869484.1:p.His1240GlnfsTer19 | |
| XM_017013996.2:c.3764_3765del | XP_016869485.1:p.Thr1255ArgfsTer26 | |
| XM_017013997.2:c.3687_3688del | XP_016869486.1:p.His1229GlnfsTer19 | |
| XM_017013998.1:c.3689_3690del | XP_016869487.1:p.Thr1230ArgfsTer26 | |
| XM_017013999.2:c.3597_3598del | XP_016869488.1:p.His1199GlnfsTer19 | |
| XM_017014000.1:c.2748_2749del | XP_016869489.1:p.His916GlnfsTer19 | |
| XM_017014001.2:c.2658_2659del | XP_016869490.1:p.His886GlnfsTer19 | |
| XR_001745626.2:n.3644_3645del | ||
| XR_001745627.2:n.3740_3741del | ||
| XR_001745628.2:n.3631_3632del | ||
| XR_001745629.2:n.3494_3495del | ||
| XR_001745630.2:n.3296_3297del | ||
| NM_004260.4:c.3599_3600del MANE Select | NP_004251.4:p.Thr1200ArgfsTer26 |