Linked Data
dbSNP Id:
rs2059830568
gnomAD v2:
17-37883578-G-GA
gnomAD v4:
17-39727325-G-GA
MyVariant Identifiers:
chr17:g.37883578_37883579insA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39727326dup , CM000679.2:g.39727326dup | GRCh38 |
| NC_000017.10:g.37883579dup , CM000679.1:g.37883579dup | GRCh37 |
| NC_000017.9:g.35137105dup | NCBI36 |
| NG_007503.1:g.44187dup , LRG_724:g.44187dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269571.10:c.3191dup MANE Select | ENSP00000269571.4:p.Pro1065AlafsTer3 | |
| ENST00000269571.9:c.3191dup | ENSP00000269571.4:p.Pro1065AlafsTer3 | |
| ENST00000406381.6:c.3101dup | ENSP00000385185.2:p.Pro1035AlafsTer3 | |
| ENST00000445658.6:c.2363dup | ENSP00000404047.2:p.Pro789AlafsTer3 | |
| ENST00000541774.5:c.3146dup | ENSP00000446466.1:p.Pro1050AlafsTer3 | |
| ENST00000578373.5:c.*2981dup | ENSP00000463427.1:n.*2981dup | |
| ENST00000584450.5:c.3159+323dup | ENSP00000463714.1:n.3159+323dup | |
| ENST00000584601.5:c.3101dup | ENSP00000462438.1:p.Pro1035AlafsTer3 | |
| NM_001005862.2:c.3101dup , LRG_724t1:c.3101dup | NP_001005862.1:p.Pro1035AlafsTer3 | |
| NM_001289936.1:c.3146dup , LRG_724t4:c.3146dup | NP_001276865.1:p.Pro1050AlafsTer3 | |
| NM_001289937.1:c.3159+323dup | NP_001276866.1:n.3159+323dup | |
| NM_004448.3:c.3191dup , LRG_724t2:c.3191dup | NP_004439.2:p.Pro1065AlafsTer3 | |
| NR_110535.1:n.3515dup | ||
| XM_024450641.1:c.3329dup | XP_024306409.1:p.Pro1111AlafsTer3 | |
| XM_024450642.1:c.3284dup | XP_024306410.1:p.Pro1096AlafsTer3 | |
| XM_024450643.1:c.3239dup | XP_024306411.1:p.Pro1081AlafsTer3 | |
| NM_001005862.3:c.3101dup | NP_001005862.1:p.Pro1035AlafsTer3 | |
| NM_001289936.2:c.3146dup | NP_001276865.1:p.Pro1050AlafsTer3 | |
| NM_001289937.2:c.3159+323dup | NP_001276866.1:n.3159+323dup | |
| NM_001382782.1:c.3101dup | NP_001369711.1:p.Pro1035AlafsTer3 | |
| NM_001382783.1:c.3101dup | NP_001369712.1:p.Pro1035AlafsTer3 | |
| NM_001382784.1:c.3308dup | NP_001369713.1:p.Pro1104AlafsTer3 | |
| NM_001382785.1:c.3293dup | NP_001369714.1:p.Pro1099AlafsTer3 | |
| NM_001382786.1:c.3272dup | NP_001369715.1:p.Pro1092AlafsTer3 | |
| NM_001382787.1:c.3266dup | NP_001369716.1:p.Pro1090AlafsTer3 | |
| NM_001382788.1:c.3221dup | NP_001369717.1:p.Pro1075AlafsTer3 | |
| NM_001382789.1:c.3212dup | NP_001369718.1:p.Pro1072AlafsTer3 | |
| NM_001382790.1:c.3188dup | NP_001369719.1:p.Pro1064AlafsTer3 | |
| NM_001382791.1:c.3182dup | NP_001369720.1:p.Pro1062AlafsTer3 | |
| NM_001382792.1:c.3155dup | NP_001369721.1:p.Pro1053AlafsTer3 | |
| NM_001382793.1:c.3149dup | NP_001369722.1:p.Pro1051AlafsTer3 | |
| NM_001382794.1:c.3149dup | NP_001369723.1:p.Pro1051AlafsTer3 | |
| NM_001382795.1:c.3143dup | NP_001369724.1:p.Pro1049AlafsTer3 | |
| NM_001382796.1:c.3104dup | NP_001369725.1:p.Pro1036AlafsTer3 | |
| NM_001382797.1:c.3092dup | NP_001369726.1:p.Pro1032AlafsTer3 | |
| NM_001382798.1:c.3035dup | NP_001369727.1:p.Pro1013AlafsTer3 | |
| NM_001382799.1:c.3011dup | NP_001369728.1:p.Pro1005AlafsTer3 | |
| NM_001382800.1:c.3005dup | NP_001369729.1:p.Pro1003AlafsTer3 | |
| NM_001382801.1:c.2987dup | NP_001369730.1:p.Pro997AlafsTer3 | |
| NM_001382802.1:c.2933dup | NP_001369731.1:p.Pro979AlafsTer3 | |
| NM_001382803.1:c.3117+323dup | NP_001369732.1:n.3117+323dup | |
| NM_001382804.1:c.2363dup | NP_001369733.1:p.Pro789AlafsTer3 | |
| NM_001382805.1:c.2240dup | NP_001369734.1:p.Pro748AlafsTer3 | |
| NM_001382806.1:c.2153dup | NP_001369735.1:p.Pro719AlafsTer3 | |
| NM_004448.4:c.3191dup MANE Select | NP_004439.2:p.Pro1065AlafsTer3 | |
| NR_110535.2:n.3429dup |