Linked Data
ClinVar Variation Id:
372964
ClinVar RCV Id:
RCV000413784
dbSNP Id:
rs1057518104
gnomAD v2:
16-2142484-C-CCTGCAGCCGCACCTG
gnomAD v4:
16-2092483-C-CCTGCAGCCGCACCTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2092485_2092499dup , CM000678.2:g.2092485_2092499dup | GRCh38 |
| NC_000016.9:g.2142486_2142500dup , CM000678.1:g.2142486_2142500dup | GRCh37 |
| NC_000016.8:g.2082487_2082501dup | NCBI36 |
| NG_008617.1:g.50723_50737dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262304.9:c.11251_11265dup (PKD1) MANE Select | ENSP00000262304.4:p.Gln3755_Glu3756insGln... | |
| ENST00000262304.8:c.11251_11265dup (PKD1) | ENSP00000262304.4:p.Gln3755_Glu3756insGln... | |
| ENST00000423118.5:c.11248_11262dup (PKD1) | ENSP00000399501.1:p.Gln3754_Glu3755insGln... | |
| ENST00000485120.1:n.100_114dup (PKD1) | ||
| ENST00000487932.5:c.5813_5827dup (PKD1) | ENSP00000457132.1:n.5813_5827dup | |
| ENST00000562425.1:c.364_378dup (PKD1) | ||
| ENST00000567355.1:n.414_428dup (PKD1) | ||
| NM_000296.3:c.11248_11262dup (PKD1) | NP_000287.3:p.Gln3754_Glu3755insGlnValArg... | |
| NM_001009944.2:c.11251_11265dup (PKD1) | NP_001009944.2:p.Gln3755_Glu3756insGlnVal... | |
| XM_005255370.2:c.8206_8220dup (PKD1) | XP_005255427.1:p.Gln2740_Glu2741insGlnVal... | |
| XM_011522525.1:c.11329_11343dup (PKD1) | XP_011520827.1:p.Gln3781_Glu3782insGlnVal... | |
| XM_011522526.1:c.11326_11340dup (PKD1) | XP_011520828.1:p.Gln3780_Glu3781insGlnVal... | |
| XM_011522527.1:c.11311_11325dup (PKD1) | XP_011520829.1:p.Gln3775_Glu3776insGlnVal... | |
| XM_011522528.1:c.11305_11319dup (PKD1) | XP_011520830.1:p.Gln3773_Glu3774insGlnVal... | |
| XM_011522529.1:c.11302_11316dup (PKD1) | XP_011520831.1:p.Gln3772_Glu3773insGlnVal... | |
| XM_011522530.1:c.11275_11289dup (PKD1) | XP_011520832.1:p.Gln3763_Glu3764insGlnVal... | |
| XM_011522531.1:c.11257_11271dup (PKD1) | XP_011520833.1:p.Gln3757_Glu3758insGlnVal... | |
| XM_011522532.1:c.11203_11217dup (PKD1) | XP_011520834.1:p.Gln3739_Glu3740insGlnVal... | |
| XM_011522533.1:c.11122_11136dup (PKD1) | XP_011520835.1:p.Gln3712_Glu3713insGlnVal... | |
| XM_011522534.1:c.11065_11079dup (PKD1) | XP_011520836.1:p.Gln3693_Glu3694insGlnVal... | |
| XM_011522535.1:c.9151_9165dup (PKD1) | XP_011520837.1:p.Gln3055_Glu3056insGlnVal... | |
| XM_011522537.1:c.8329_8343dup (PKD1) | XP_011520839.1:p.Gln2781_Glu2782insGlnVal... | |
| XR_932867.1:n.11344_11358dup (PKD1) | ||
| XR_932868.1:n.11110-310_11110-296dup (PKD1) | ||
| XR_932869.1:n.11110-310_11110-296dup (PKD1) | ||
| XR_932870.1:n.11204_11218dup (PKD1) | ||
| XR_933000.1:n.90-404_90-390dup (PKD1-AS1) | ||
| XR_933001.1:n.180-404_180-390dup (PKD1-AS1) | ||
| XR_933002.1:n.89-404_89-390dup (PKD1-AS1) | ||
| XR_933003.1:n.89-404_89-390dup (PKD1-AS1) | ||
| NR_135175.1:n.180-404_180-390dup (PKD1-AS1) | ||
| XM_005255370.3:c.8206_8220dup (PKD1) | XP_005255427.1:p.Gln2740_Glu2741insGlnVal... | |
| XM_011522528.3:c.11305_11319dup (PKD1) | XP_011520830.1:p.Gln3773_Glu3774insGlnVal... | |
| XM_011522529.2:c.11302_11316dup (PKD1) | XP_011520831.1:p.Gln3772_Glu3773insGlnVal... | |
| XM_011522537.2:c.8329_8343dup (PKD1) | XP_011520839.1:p.Gln2781_Glu2782insGlnVal... | |
| XM_024450298.1:c.11371_11385dup (PKD1) | XP_024306066.1:p.Gln3795_Glu3796insGlnVal... | |
| XM_024450299.1:c.11299_11313dup (PKD1) | XP_024306067.1:p.Gln3771_Glu3772insGlnVal... | |
| XM_024450300.1:c.11161_11175dup (PKD1) | XP_024306068.1:p.Gln3725_Glu3726insGlnVal... | |
| XM_024450301.1:c.9247_9261dup (PKD1) | XP_024306069.1:p.Gln3087_Glu3088insGlnVal... | |
| NM_000296.4:c.11248_11262dup (PKD1) | NP_000287.4:p.Gln3754_Glu3755insGlnValArg... | |
| NM_001009944.3:c.11251_11265dup (PKD1) MANE Select | NP_001009944.3:p.Gln3755_Glu3756insGlnVal... |