Linked Data
ClinVar Variation Id:
553554
ClinVar RCV Id:
RCV000669030
dbSNP Id:
rs1555100603
MyVariant Identifiers:
chr11:g.77199794dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77199794dup , CM000673.2:g.77199794dup | GRCh38 |
| NC_000011.9:g.76910839dup , CM000673.1:g.76910839dup | GRCh37 |
| NC_000011.8:g.76588487dup | NCBI36 |
| NG_009086.1:g.76530dup | |
| NG_009086.2:g.76549dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.4828dup MANE Select | ENSP00000386331.3:p.Ala1610GlyfsTer5 | |
| ENST00000670577.1:c.2669dup | ||
| ENST00000409619.6:c.4681dup | ENSP00000386635.2:p.Ala1561GlyfsTer5 | |
| ENST00000409709.7:c.4828dup | ENSP00000386331.3:p.Ala1610GlyfsTer5 | |
| ENST00000458169.2:c.2257dup | ENSP00000417017.2:p.Ala753GlyfsTer5 | |
| ENST00000458637.6:c.4714dup | ENSP00000392185.2:p.Ala1572GlyfsTer5 | |
| ENST00000481328.7:n.2367dup | ||
| NM_000260.3:c.4828dup | NP_000251.3:p.Ala1610GlyfsTer5 | |
| NM_001127180.1:c.4714dup | NP_001120652.1:p.Ala1572GlyfsTer5 | |
| XM_005274012.2:c.4714dup | XP_005274069.1:p.Ala1572GlyfsTer5 | |
| XM_006718558.2:c.4822dup | XP_006718621.1:p.Ala1608GlyfsTer5 | |
| XM_006718559.2:c.4714dup | XP_006718622.1:p.Ala1572GlyfsTer5 | |
| XM_006718560.2:c.4714dup | XP_006718623.1:p.Ala1572GlyfsTer5 | |
| XM_006718561.2:c.4714dup | XP_006718624.1:p.Ala1572GlyfsTer5 | |
| XM_011545044.1:c.4828dup | XP_011543346.1:p.Ala1610GlyfsTer5 | |
| XM_011545045.1:c.4822dup | XP_011543347.1:p.Ala1608GlyfsTer5 | |
| XM_011545046.1:c.4795dup | XP_011543348.1:p.Ala1599GlyfsTer5 | |
| XM_011545047.1:c.4732dup | XP_011543349.1:p.Ala1578GlyfsTer5 | |
| XM_011545048.1:c.4603dup | XP_011543350.1:p.Ala1535GlyfsTer5 | |
| XM_011545049.1:c.4591dup | XP_011543351.1:p.Ala1531GlyfsTer5 | |
| XM_011545050.1:c.4564dup | XP_011543352.1:p.Ala1522GlyfsTer5 | |
| XM_011545051.1:c.4828dup | XP_011543353.1:p.Ala1610GlyfsTer5 | |
| XM_011545052.1:c.4828dup | XP_011543354.1:p.Ala1610GlyfsTer5 | |
| XR_949938.1:n.5148dup | ||
| XR_949941.1:n.5148dup | ||
| XR_949942.1:n.5150dup | ||
| XM_011545044.2:c.4828dup | XP_011543346.1:p.Ala1610GlyfsTer5 | |
| XM_011545046.2:c.4918dup | XP_011543348.2:p.Ala1640GlyfsTer5 | |
| XM_011545050.2:c.4564dup | XP_011543352.1:p.Ala1522GlyfsTer5 | |
| XM_017017778.1:c.4912dup | XP_016873267.1:p.Ala1638GlyfsTer5 | |
| XM_017017779.1:c.4912dup | XP_016873268.1:p.Ala1638GlyfsTer5 | |
| XM_017017780.1:c.4918dup | XP_016873269.1:p.Ala1640GlyfsTer5 | |
| XM_017017781.1:c.4822dup | XP_016873270.1:p.Ala1608GlyfsTer5 | |
| XM_017017782.1:c.4804dup | XP_016873271.1:p.Ala1602GlyfsTer5 | |
| XM_017017783.1:c.4804dup | XP_016873272.1:p.Ala1602GlyfsTer5 | |
| XM_017017784.1:c.4804dup | XP_016873273.1:p.Ala1602GlyfsTer5 | |
| XM_017017785.1:c.4681dup | XP_016873274.1:p.Ala1561GlyfsTer5 | |
| XM_017017786.1:c.4918dup | XP_016873275.1:p.Ala1640GlyfsTer5 | |
| XM_017017788.1:c.4804dup | XP_016873277.1:p.Ala1602GlyfsTer5 | |
| XR_001747885.1:n.4933dup | ||
| XR_001747886.1:n.4933dup | ||
| XR_001747887.1:n.4933dup | ||
| XR_001747888.1:n.4933dup | ||
| NM_000260.4:c.4828dup MANE Select | NP_000251.3:p.Ala1610GlyfsTer5 | |
| NM_001127180.2:c.4714dup | NP_001120652.1:p.Ala1572GlyfsTer5 | |
| NM_001369365.1:c.4681dup | NP_001356294.1:p.Ala1561GlyfsTer5 |