Linked Data
dbSNP Id:
rs1382910137
gnomAD v2:
11-84417768-A-AAGGGAGGG
gnomAD v3:
11-84706725-A-AAGGGAGGG
gnomAD v4:
11-84706725-A-AAGGGAGGG
MyVariant Identifiers:
chr11:g.84417768_84417769insAGGGAGGG (hg19)
chr11:g.84706725_84706726insAGGGAGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.84706735_84706742dup , CM000673.2:g.84706735_84706742dup | GRCh38 |
| NC_000011.9:g.84417778_84417785dup , CM000673.1:g.84417778_84417785dup | GRCh37 |
| NC_000011.8:g.84095426_84095433dup | NCBI36 |
| NG_021375.1:g.925539_925546dup | |
| NG_021375.2:g.926803_926810dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527088.2:c.106-172002_106-171995dup | ENSP00000435809.2:n.106-172002_106-171995dup | |
| ENST00000705960.1:n.715-172002_715-171995dup | ||
| ENST00000706006.1:c.469-172002_469-171995dup | ENSP00000516200.1:n.469-172002_469-171995dup | |
| ENST00000706007.1:c.*272-172002_*272-171995dup | ENSP00000516201.1:n.*272-172002_*272-171995dup | |
| ENST00000706226.1:c.394-172002_394-171995dup | ENSP00000516284.1:n.394-172002_394-171995dup | |
| ENST00000706233.1:c.394-172005_394-171998dup | ENSP00000516288.1:n.394-172005_394-171998dup | |
| ENST00000706244.1:n.45-172002_45-171995dup | ||
| ENST00000706266.1:c.102+13563_102+13570dup | ENSP00000516312.1:n.102+13563_102+13570dup | |
| ENST00000706267.1:c.102+13563_102+13570dup | ENSP00000516313.1:n.102+13563_102+13570dup | |
| ENST00000376104.7:c.358-172002_358-171995dup MANE Select | ENSP00000365272.2:n.358-172002_358-171995dup | |
| ENST00000648622.1:c.102+13563_102+13570dup | ENSP00000497475.1:n.102+13563_102+13570dup | |
| ENST00000650630.1:c.469-172002_469-171995dup | ENSP00000497771.1:n.469-172002_469-171995dup | |
| ENST00000376104.6:c.358-172002_358-171995dup | ENSP00000365272.2:n.358-172002_358-171995dup | |
| ENST00000398309.6:c.43-172002_43-171995dup | ENSP00000381355.2:n.43-172002_43-171995dup | |
| ENST00000524982.5:c.43-172002_43-171995dup | ENSP00000432894.1:n.43-172002_43-171995dup | |
| ENST00000527088.1:c.106-172002_106-171995dup | ENSP00000435809.1:n.106-172002_106-171995dup | |
| ENST00000529111.5:n.321-172002_321-171995dup | ||
| ENST00000530589.1:n.62-19456_62-19449dup | ||
| ENST00000532653.5:c.43-172002_43-171995dup | ENSP00000435849.1:n.43-172002_43-171995dup | |
| NM_001142699.1:c.358-172002_358-171995dup | NP_001136171.1:n.358-172002_358-171995dup | |
| NM_001300983.1:c.43-172002_43-171995dup | NP_001287912.1:n.43-172002_43-171995dup | |
| NM_001364.3:c.43-172002_43-171995dup | NP_001355.2:n.43-172002_43-171995dup | |
| XM_005273806.2:c.102+13563_102+13570dup | XP_005273863.1:n.102+13563_102+13570dup | |
| XM_011544778.1:c.508-172002_508-171995dup | XP_011543080.1:n.508-172002_508-171995dup | |
| XM_011544779.1:c.469-172002_469-171995dup | XP_011543081.1:n.469-172002_469-171995dup | |
| XM_011544780.1:c.508-172002_508-171995dup | XP_011543082.1:n.508-172002_508-171995dup | |
| XM_011544781.1:c.433-172002_433-171995dup | XP_011543083.1:n.433-172002_433-171995dup | |
| XM_011544782.1:c.106-172002_106-171995dup | XP_011543084.1:n.106-172002_106-171995dup | |
| XM_011544783.1:c.102+13563_102+13570dup | XP_011543085.1:n.102+13563_102+13570dup | |
| XM_011544784.1:c.43-172005_43-171998dup | XP_011543086.1:n.43-172005_43-171998dup | |
| XM_011544785.1:c.31-172002_31-171995dup | XP_011543087.1:n.31-172002_31-171995dup | |
| XM_011544786.1:c.508-172002_508-171995dup | XP_011543088.1:n.508-172002_508-171995dup | |
| NM_001351274.1:c.394-172002_394-171995dup | NP_001338203.1:n.394-172002_394-171995dup | |
| NM_001351275.1:c.394-172005_394-171998dup | NP_001338204.1:n.394-172005_394-171998dup | |
| NM_001351276.1:c.102+13563_102+13570dup | NP_001338205.1:n.102+13563_102+13570dup | |
| XM_011544778.3:c.508-172002_508-171995dup | XP_011543080.1:n.508-172002_508-171995dup | |
| XM_011544780.3:c.508-172002_508-171995dup | XP_011543082.1:n.508-172002_508-171995dup | |
| XM_011544782.2:c.106-172002_106-171995dup | XP_011543084.1:n.106-172002_106-171995dup | |
| XM_017017254.2:c.508-172002_508-171995dup | XP_016872743.1:n.508-172002_508-171995dup | |
| XM_017017255.2:c.469-172002_469-171995dup | XP_016872744.1:n.469-172002_469-171995dup | |
| XM_017017256.2:c.469-172002_469-171995dup | XP_016872745.1:n.469-172002_469-171995dup | |
| XM_017017257.2:c.469-172005_469-171998dup | XP_016872746.1:n.469-172005_469-171998dup | |
| XM_017017258.1:c.346-172002_346-171995dup | XP_016872747.1:n.346-172002_346-171995dup | |
| XM_017017261.2:c.508-172002_508-171995dup | XP_016872750.1:n.508-172002_508-171995dup | |
| XM_017017263.1:c.106-172002_106-171995dup | XP_016872752.1:n.106-172002_106-171995dup | |
| XM_017017264.2:c.102+13563_102+13570dup | XP_016872753.1:n.102+13563_102+13570dup | |
| XM_017017265.2:c.102+13563_102+13570dup | XP_016872754.1:n.102+13563_102+13570dup | |
| XM_017017267.1:c.43-172002_43-171995dup | XP_016872756.1:n.43-172002_43-171995dup | |
| XM_017017268.1:c.43-172005_43-171998dup | XP_016872757.1:n.43-172005_43-171998dup | |
| XM_017017269.1:c.31-172002_31-171995dup | XP_016872758.1:n.31-172002_31-171995dup | |
| XM_017017270.1:c.106-172002_106-171995dup | XP_016872759.1:n.106-172002_106-171995dup | |
| XM_017017271.2:c.102+13563_102+13570dup | XP_016872760.1:n.102+13563_102+13570dup | |
| XM_017017274.1:c.43-172002_43-171995dup | XP_016872763.1:n.43-172002_43-171995dup | |
| XM_017017276.1:c.31-172002_31-171995dup | XP_016872765.1:n.31-172002_31-171995dup | |
| XM_017017279.1:c.106-172002_106-171995dup | XP_016872768.1:n.106-172002_106-171995dup | |
| XM_017017280.2:c.106-172005_106-171998dup | XP_016872769.1:n.106-172005_106-171998dup | |
| XM_017017281.2:c.102+13563_102+13570dup | XP_016872770.1:n.102+13563_102+13570dup | |
| XM_017017285.1:c.31-172002_31-171995dup | XP_016872774.1:n.31-172002_31-171995dup | |
| XM_024448378.1:c.394-172002_394-171995dup | XP_024304146.1:n.394-172002_394-171995dup | |
| XM_024448379.1:c.394-172005_394-171998dup | XP_024304147.1:n.394-172005_394-171998dup | |
| NM_001351274.2:c.394-172002_394-171995dup | NP_001338203.1:n.394-172002_394-171995dup | |
| NM_001351276.2:c.102+13563_102+13570dup | NP_001338205.1:n.102+13563_102+13570dup | |
| NM_001142699.3:c.358-172002_358-171995dup MANE Select | NP_001136171.1:n.358-172002_358-171995dup | |
| NM_001351275.2:c.394-172005_394-171998dup | NP_001338204.1:n.394-172005_394-171998dup | |
| NM_001377968.1:c.43-172002_43-171995dup | NP_001364897.1:n.43-172002_43-171995dup |