Linked Data
ClinVar Variation Id:
186335
dbSNP Id:
rs763443434
gnomAD v2:
17-59761402-C-CAGCTGTCA
gnomAD v3:
17-61684041-C-CAGCTGTCA
gnomAD v4:
17-61684041-C-CAGCTGTCA
MyVariant Identifiers:
chr17:g.59761402_59761403insAGCTGTCA (hg19)
chr17:g.61684041_61684042insAGCTGTCA (hg38)
PubMed:
PMID:18628483
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61684045_61684046insGTCAAGCT , CM000679.2:g.61684045_61684046insGTCAAGCT | GRCh38 |
| NC_000017.10:g.59761406_59761407insGTCAAGCT , CM000679.1:g.59761406_59761407insGTCAAGCT | GRCh37 |
| NC_000017.9:g.57116188_57116189insGTCAAGCT | NCBI36 |
| NG_007409.2:g.184518_184519insTGACAGCT , LRG_300:g.184518_184519insTGACAGCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1744_1745insTGACAGCT | ||
| ENST00000682453.1:c.3004_3005insTGACAGCT | ENSP00000506943.1:p.Trp1002LeufsTer? | |
| ENST00000682477.1:c.*2430_*2431insTGACAGCT | ENSP00000507075.1:n.*2430_*2431insTGACAGCT | |
| ENST00000682589.1:n.8881_8882insTGACAGCT | ||
| ENST00000682755.1:c.2782_2783insTGACAGCT | ENSP00000507660.1:p.Trp928LeufsTer? | |
| ENST00000682989.1:c.*95_*96insTGACAGCT | ENSP00000507786.1:n.*95_*96insTGACAGCT | |
| ENST00000683039.1:c.3004_3005insTGACAGCT | ENSP00000508303.1:p.Trp1002LeufsTer? | |
| ENST00000683235.1:c.*419_*420insTGACAGCT | ENSP00000507646.1:n.*419_*420insTGACAGCT | |
| ENST00000683535.1:n.1134_1135insTGACAGCT | ||
| ENST00000684584.1:c.2167_2168insTGACAGCT | ENSP00000508044.1:p.Trp723LeufsTer? | |
| ENST00000684626.1:n.1250_1251insTGACAGCT | ||
| ENST00000684769.1:c.1194_1195insTGACAGCT | ENSP00000507691.1:n.1194_1195insTGACAGCT | |
| ENST00000259008.7:c.3004_3005insTGACAGCT MANE Select | ENSP00000259008.2:p.Trp1002LeufsTer? | |
| ENST00000259008.6:c.3004_3005insTGACAGCT | ENSP00000259008.2:p.Trp1002LeufsTer? | |
| NM_032043.2:c.3004_3005insTGACAGCT , LRG_300t1:c.3004_3005insTGACAGCT | NP_114432.2:p.Trp1002LeufsTer? | |
| XM_011525332.1:c.3064_3065insTGACAGCT | XP_011523634.1:p.Trp1022LeufsTer? | |
| XM_011525333.1:c.3064_3065insTGACAGCT | XP_011523635.1:p.Trp1022LeufsTer? | |
| XM_011525334.1:c.3064_3065insTGACAGCT | XP_011523636.1:p.Trp1022LeufsTer? | |
| XM_011525335.1:c.3004_3005insTGACAGCT | XP_011523637.1:p.Trp1002LeufsTer? | |
| XM_011525336.1:c.2944_2945insTGACAGCT | XP_011523638.1:p.Trp982LeufsTer? | |
| XM_011525337.1:c.2863_2864insTGACAGCT | XP_011523639.1:p.Trp955LeufsTer? | |
| XM_011525338.1:c.2581_2582insTGACAGCT | XP_011523640.1:p.Trp861LeufsTer? | |
| XM_011525332.3:c.3064_3065insTGACAGCT | XP_011523634.1:p.Trp1022LeufsTer? | |
| XM_011525333.3:c.3064_3065insTGACAGCT | XP_011523635.1:p.Trp1022LeufsTer? | |
| XM_011525334.2:c.3064_3065insTGACAGCT | XP_011523636.1:p.Trp1022LeufsTer? | |
| XM_011525335.3:c.3004_3005insTGACAGCT | XP_011523637.1:p.Trp1002LeufsTer? | |
| XM_011525336.2:c.2944_2945insTGACAGCT | XP_011523638.1:p.Trp982LeufsTer? | |
| XM_011525337.2:c.2863_2864insTGACAGCT | XP_011523639.1:p.Trp955LeufsTer? | |
| XM_011525338.2:c.2581_2582insTGACAGCT | XP_011523640.1:p.Trp861LeufsTer? | |
| XM_017025200.1:c.2521_2522insTGACAGCT | XP_016880689.1:p.Trp841LeufsTer? | |
| XM_017025201.1:c.2521_2522insTGACAGCT | XP_016880690.1:p.Trp841LeufsTer? | |
| XM_017025202.1:c.1150_1151insTGACAGCT | XP_016880691.1:p.Trp384LeufsTer? | |
| XM_017025203.1:c.1150_1151insTGACAGCT | XP_016880692.1:p.Trp384LeufsTer? | |
| NM_032043.3:c.3004_3005insTGACAGCT MANE Select | NP_114432.2:p.Trp1002LeufsTer? |