Linked Data
dbSNP Id:
rs1341768497
gnomAD v4:
17-39727606-C-CAGG
MyVariant Identifiers:
chr17:g.37883859_37883860insAGG (hg19)
chr17:g.39727606_39727607insAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727607_39727609dup , CM000679.2:g.39727607_39727609dup | GRCh38 |
| NC_000017.10:g.37883860_37883862dup , CM000679.1:g.37883860_37883862dup | GRCh37 |
| NC_000017.9:g.35137386_35137388dup | NCBI36 |
| NG_007503.1:g.44468_44470dup , LRG_724:g.44468_44470dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3412+60_3412+62dup MANE Select | ENSP00000269571.4:n.3412+60_3412+62dup | |
| ENST00000269571.9:c.3412+60_3412+62dup | ENSP00000269571.4:n.3412+60_3412+62dup | |
| ENST00000406381.6:c.3322+60_3322+62dup | ENSP00000385185.2:n.3322+60_3322+62dup | |
| ENST00000445658.6:c.2584+60_2584+62dup | ENSP00000404047.2:n.2584+60_2584+62dup | |
| ENST00000541774.5:c.3367+60_3367+62dup | ENSP00000446466.1:n.3367+60_3367+62dup | |
| ENST00000578373.5:c.*3202+60_*3202+62dup | ENSP00000463427.1:n.*3202+60_*3202+62dup | |
| ENST00000584450.5:c.3160-82_3160-80dup | ENSP00000463714.1:n.3160-82_3160-80dup | |
| ENST00000584601.5:c.3322+60_3322+62dup | ENSP00000462438.1:n.3322+60_3322+62dup | |
| NM_001005862.2:c.3322+60_3322+62dup , LRG_724t1:c.3322+60_3322+62dup | NP_001005862.1:n.3322+60_3322+62dup | |
| NM_001289936.1:c.3367+60_3367+62dup , LRG_724t4:c.3367+60_3367+62dup | NP_001276865.1:n.3367+60_3367+62dup | |
| NM_001289937.1:c.3160-82_3160-80dup | NP_001276866.1:n.3160-82_3160-80dup | |
| NM_004448.3:c.3412+60_3412+62dup , LRG_724t2:c.3412+60_3412+62dup | NP_004439.2:n.3412+60_3412+62dup | |
| NR_110535.1:n.3736+60_3736+62dup | ||
| XM_024450641.1:c.3550+60_3550+62dup | XP_024306409.1:n.3550+60_3550+62dup | |
| XM_024450642.1:c.3505+60_3505+62dup | XP_024306410.1:n.3505+60_3505+62dup | |
| XM_024450643.1:c.3460+60_3460+62dup | XP_024306411.1:n.3460+60_3460+62dup | |
| NM_001005862.3:c.3322+60_3322+62dup | NP_001005862.1:n.3322+60_3322+62dup | |
| NM_001289936.2:c.3367+60_3367+62dup | NP_001276865.1:n.3367+60_3367+62dup | |
| NM_001289937.2:c.3160-82_3160-80dup | NP_001276866.1:n.3160-82_3160-80dup | |
| NM_001382782.1:c.3322+60_3322+62dup | NP_001369711.1:n.3322+60_3322+62dup | |
| NM_001382783.1:c.3322+60_3322+62dup | NP_001369712.1:n.3322+60_3322+62dup | |
| NM_001382784.1:c.3529+60_3529+62dup | NP_001369713.1:n.3529+60_3529+62dup | |
| NM_001382785.1:c.3514+60_3514+62dup | NP_001369714.1:n.3514+60_3514+62dup | |
| NM_001382786.1:c.3493+60_3493+62dup | NP_001369715.1:n.3493+60_3493+62dup | |
| NM_001382787.1:c.3487+60_3487+62dup | NP_001369716.1:n.3487+60_3487+62dup | |
| NM_001382788.1:c.3442+60_3442+62dup | NP_001369717.1:n.3442+60_3442+62dup | |
| NM_001382789.1:c.3433+60_3433+62dup | NP_001369718.1:n.3433+60_3433+62dup | |
| NM_001382790.1:c.3409+60_3409+62dup | NP_001369719.1:n.3409+60_3409+62dup | |
| NM_001382791.1:c.3403+60_3403+62dup | NP_001369720.1:n.3403+60_3403+62dup | |
| NM_001382792.1:c.3376+60_3376+62dup | NP_001369721.1:n.3376+60_3376+62dup | |
| NM_001382793.1:c.3370+60_3370+62dup | NP_001369722.1:n.3370+60_3370+62dup | |
| NM_001382794.1:c.3370+60_3370+62dup | NP_001369723.1:n.3370+60_3370+62dup | |
| NM_001382795.1:c.3364+60_3364+62dup | NP_001369724.1:n.3364+60_3364+62dup | |
| NM_001382796.1:c.3325+60_3325+62dup | NP_001369725.1:n.3325+60_3325+62dup | |
| NM_001382797.1:c.3313+60_3313+62dup | NP_001369726.1:n.3313+60_3313+62dup | |
| NM_001382798.1:c.3256+60_3256+62dup | NP_001369727.1:n.3256+60_3256+62dup | |
| NM_001382799.1:c.3232+60_3232+62dup | NP_001369728.1:n.3232+60_3232+62dup | |
| NM_001382800.1:c.3226+60_3226+62dup | NP_001369729.1:n.3226+60_3226+62dup | |
| NM_001382801.1:c.3208+60_3208+62dup | NP_001369730.1:n.3208+60_3208+62dup | |
| NM_001382802.1:c.3154+60_3154+62dup | NP_001369731.1:n.3154+60_3154+62dup | |
| NM_001382803.1:c.3118-82_3118-80dup | NP_001369732.1:n.3118-82_3118-80dup | |
| NM_001382804.1:c.2584+60_2584+62dup | NP_001369733.1:n.2584+60_2584+62dup | |
| NM_001382805.1:c.2461+60_2461+62dup | NP_001369734.1:n.2461+60_2461+62dup | |
| NM_001382806.1:c.2374+60_2374+62dup | NP_001369735.1:n.2374+60_2374+62dup | |
| NM_004448.4:c.3412+60_3412+62dup MANE Select | NP_004439.2:n.3412+60_3412+62dup | |
| NR_110535.2:n.3650+60_3650+62dup |