Linked Data
ClinVar Variation Id:
2573112
ClinVar RCV Id:
RCV003315274
dbSNP Id:
rs768092215
ExAC:
17:37884217 C / CG
gnomAD v4:
17-39727964-C-CG
COSMIC:
COSM4681503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727970dup , CM000679.2:g.39727970dup | GRCh38 |
| NC_000017.10:g.37884223dup , CM000679.1:g.37884223dup | GRCh37 |
| NC_000017.9:g.35137749dup | NCBI36 |
| NG_007503.1:g.44831dup , LRG_724:g.44831dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3694dup MANE Select | ENSP00000269571.4:p.Ala1232GlyfsTer? | |
| ENST00000269571.9:c.3694dup | ENSP00000269571.4:p.Ala1232GlyfsTer? | |
| ENST00000406381.6:c.3604dup | ENSP00000385185.2:p.Ala1202GlyfsTer? | |
| ENST00000445658.6:c.2866dup | ENSP00000404047.2:p.Ala956GlyfsTer? | |
| ENST00000541774.5:c.3649dup | ENSP00000446466.1:p.Ala1217GlyfsTer? | |
| ENST00000578373.5:c.*3484dup | ENSP00000463427.1:n.*3484dup | |
| ENST00000584450.5:c.*273dup | ENSP00000463714.1:n.*273dup | |
| ENST00000584601.5:c.3604dup | ENSP00000462438.1:p.Ala1202GlyfsTer? | |
| NM_001005862.2:c.3604dup , LRG_724t1:c.3604dup | NP_001005862.1:p.Ala1202GlyfsTer? | |
| NM_001289936.1:c.3649dup , LRG_724t4:c.3649dup | NP_001276865.1:p.Ala1217GlyfsTer? | |
| NM_001289937.1:c.*273dup | NP_001276866.1:n.*273dup | |
| NM_004448.3:c.3694dup , LRG_724t2:c.3694dup | NP_004439.2:p.Ala1232GlyfsTer? | |
| NR_110535.1:n.4018dup | ||
| XM_024450641.1:c.3832dup | XP_024306409.1:p.Ala1278GlyfsTer? | |
| XM_024450642.1:c.3787dup | XP_024306410.1:p.Ala1263GlyfsTer? | |
| XM_024450643.1:c.3742dup | XP_024306411.1:p.Ala1248GlyfsTer? | |
| NM_001005862.3:c.3604dup | NP_001005862.1:p.Ala1202GlyfsTer? | |
| NM_001289936.2:c.3649dup | NP_001276865.1:p.Ala1217GlyfsTer? | |
| NM_001289937.2:c.*273dup | NP_001276866.1:n.*273dup | |
| NM_001382782.1:c.3604dup | NP_001369711.1:p.Ala1202GlyfsTer? | |
| NM_001382783.1:c.3604dup | NP_001369712.1:p.Ala1202GlyfsTer? | |
| NM_001382784.1:c.3811dup | NP_001369713.1:p.Ala1271GlyfsTer? | |
| NM_001382785.1:c.3796dup | NP_001369714.1:p.Ala1266GlyfsTer? | |
| NM_001382786.1:c.3775dup | NP_001369715.1:p.Ala1259GlyfsTer? | |
| NM_001382787.1:c.3769dup | NP_001369716.1:p.Ala1257GlyfsTer? | |
| NM_001382788.1:c.3724dup | NP_001369717.1:p.Ala1242GlyfsTer? | |
| NM_001382789.1:c.3715dup | NP_001369718.1:p.Ala1239GlyfsTer? | |
| NM_001382790.1:c.3691dup | NP_001369719.1:p.Ala1231GlyfsTer? | |
| NM_001382791.1:c.3685dup | NP_001369720.1:p.Ala1229GlyfsTer? | |
| NM_001382792.1:c.3658dup | NP_001369721.1:p.Ala1220GlyfsTer? | |
| NM_001382793.1:c.3652dup | NP_001369722.1:p.Ala1218GlyfsTer? | |
| NM_001382794.1:c.3652dup | NP_001369723.1:p.Ala1218GlyfsTer? | |
| NM_001382795.1:c.3646dup | NP_001369724.1:p.Ala1216GlyfsTer? | |
| NM_001382796.1:c.3607dup | NP_001369725.1:p.Ala1203GlyfsTer? | |
| NM_001382797.1:c.3595dup | NP_001369726.1:p.Ala1199GlyfsTer? | |
| NM_001382798.1:c.3538dup | NP_001369727.1:p.Ala1180GlyfsTer? | |
| NM_001382799.1:c.3514dup | NP_001369728.1:p.Ala1172GlyfsTer? | |
| NM_001382800.1:c.3508dup | NP_001369729.1:p.Ala1170GlyfsTer? | |
| NM_001382801.1:c.3490dup | NP_001369730.1:p.Ala1164GlyfsTer? | |
| NM_001382802.1:c.3436dup | NP_001369731.1:p.Ala1146GlyfsTer? | |
| NM_001382803.1:c.*273dup | NP_001369732.1:n.*273dup | |
| NM_001382804.1:c.2866dup | NP_001369733.1:p.Ala956GlyfsTer? | |
| NM_001382805.1:c.2743dup | NP_001369734.1:p.Ala915GlyfsTer? | |
| NM_001382806.1:c.2656dup | NP_001369735.1:p.Ala886GlyfsTer? | |
| NM_004448.4:c.3694dup MANE Select | NP_004439.2:p.Ala1232GlyfsTer? | |
| NR_110535.2:n.3932dup |