Linked Data
ClinVar Variation Id:
56625
dbSNP Id:
rs386834051
gnomAD v2:
17-56296536-T-TCCCGG
gnomAD v4:
17-58219175-T-TCCCGG
MyVariant Identifiers:
chr17:g.56296537_56296541dupCCCGG (hg19)
chr17:g.56296536_56296537insCCCGG (hg19)
chr17:g.58219176_58219180dupCCCGG (hg38)
chr17:g.58219175_58219176insCCCGG (hg38)
PubMed:
PMID:16415886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58219176_58219180dup , CM000679.2:g.58219176_58219180dup | GRCh38 |
| NC_000017.10:g.56296537_56296541dup , CM000679.1:g.56296537_56296541dup | GRCh37 |
| NC_000017.9:g.53651536_53651540dup | NCBI36 |
| NG_013032.1:g.5426_5430dup , LRG_687:g.5426_5430dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313863.11:c.51_55dup (MKS1) | ENSP00000316631.6:p.Asp19AlafsTer? | |
| ENST00000393119.7:c.51_55dup (MKS1) MANE Select | ENSP00000376827.2:p.Asp19AlafsTer? | |
| ENST00000537529.7:c.-350+282_-350+286dup (MKS1) | ENSP00000442096.3:n.-350+282_-350+286dup | |
| ENST00000580127.6:c.51_55dup (MKS1) | ENSP00000462423.2:p.Asp19AlafsTer? | |
| ENST00000581180.2:c.51_55dup (MKS1) | ENSP00000502288.1:p.Asp19AlafsTer? | |
| ENST00000581761.6:c.51_55dup (MKS1) | ENSP00000462129.2:p.Asp19AlafsTer? | |
| ENST00000585134.2:c.51_55dup (MKS1) | ENSP00000463826.2:p.Asp19AlafsTer? | |
| ENST00000675753.2:c.51_55dup (MKS1) | ENSP00000502156.1:p.Asp19AlafsTer? | |
| ENST00000676787.1:c.51_55dup (MKS1) | ENSP00000503999.1:p.Asp19AlafsTer? | |
| ENST00000677076.1:n.76_80dup (MKS1) | ||
| ENST00000677111.1:c.51_55dup (MKS1) | ENSP00000504282.1:p.Asp19AlafsTer? | |
| ENST00000677160.1:n.76_80dup (MKS1) | ||
| ENST00000677416.1:n.76_80dup (MKS1) | ||
| ENST00000677475.1:n.76_80dup (MKS1) | ||
| ENST00000677486.1:c.51_55dup (MKS1) | ENSP00000503852.1:p.Asp19AlafsTer? | |
| ENST00000677546.1:c.51_55dup (MKS1) | ENSP00000504043.1:p.Asp19AlafsTer? | |
| ENST00000677709.1:n.76_80dup (MKS1) | ||
| ENST00000677791.1:n.76_80dup (MKS1) | ||
| ENST00000678011.1:n.76_80dup (MKS1) | ||
| ENST00000678211.1:n.76_80dup (MKS1) | ||
| ENST00000678432.1:c.51_55dup (MKS1) | ENSP00000504452.1:p.Asp19AlafsTer? | |
| ENST00000678463.1:c.51_55dup (MKS1) | ENSP00000502984.1:p.Asp19AlafsTer? | |
| ENST00000678481.1:n.76_80dup (MKS1) | ||
| ENST00000678568.1:c.51_55dup (MKS1) | ENSP00000504754.1:p.Asp19AlafsTer? | |
| ENST00000678641.1:c.51_55dup (MKS1) | ENSP00000503159.1:p.Asp19AlafsTer? | |
| ENST00000678928.1:n.76_80dup (MKS1) | ||
| ENST00000679081.1:n.76_80dup (MKS1) | ||
| ENST00000313863.10:c.51_55dup (MKS1) | ENSP00000316631.6:p.Asp19AlafsTer? | |
| ENST00000393119.6:c.51_55dup (MKS1) | ENSP00000376827.2:p.Asp19AlafsTer? | |
| ENST00000393120.6:c.51_55dup (MKS1) | ENSP00000376828.2:p.Asp19AlafsTer? | |
| ENST00000537529.6:c.50+282_50+286dup (MKS1) | ENSP00000442096.2:n.50+282_50+286dup | |
| ENST00000578789.1:c.51_55dup (MKS1) | ENSP00000462411.1:p.Asp19AlafsTer? | |
| ENST00000580127.5:c.51_55dup (MKS1) | ENSP00000462423.1:p.Asp19AlafsTer? | |
| ENST00000581180.1:n.51_55dup (MKS1) | ||
| ENST00000581761.5:c.51_55dup (MKS1) | ENSP00000462129.1:p.Asp19AlafsTer? | |
| ENST00000582328.5:c.-289+359_-289+363dup (LPO) | ENSP00000464636.1:n.-289+359_-289+363dup | |
| NM_001165927.1:c.50+282_50+286dup , LRG_687t2:c.50+282_50+286dup (MKS1) | NP_001159399.1:n.50+282_50+286dup | |
| NM_017777.3:c.51_55dup , LRG_687t1:c.51_55dup (MKS1) | NP_060247.2:p.Asp19AlafsTer? | |
| XM_005257483.3:c.51_55dup (MKS1) | XP_005257540.1:p.Asp19AlafsTer? | |
| XM_005257485.3:c.-439_-435dup (MKS1) | XP_005257542.1:n.-439_-435dup | |
| XM_005257486.3:c.-461_-457dup (MKS1) | XP_005257543.1:n.-461_-457dup | |
| XM_006721965.2:c.-461_-457dup (MKS1) | XP_006722028.1:n.-461_-457dup | |
| XM_011524957.1:c.51_55dup (MKS1) | XP_011523259.1:p.Asp19AlafsTer? | |
| XM_011524958.1:c.51_55dup (MKS1) | XP_011523260.1:p.Asp19AlafsTer? | |
| XM_011524959.1:c.51_55dup (MKS1) | XP_011523261.1:p.Asp19AlafsTer? | |
| XM_011524960.1:c.51_55dup (MKS1) | XP_011523262.1:p.Asp19AlafsTer? | |
| XR_934494.1:n.99_103dup (MKS1) | ||
| NM_001321268.1:c.-461_-457dup (MKS1) | NP_001308197.1:n.-461_-457dup | |
| NM_001321269.1:c.51_55dup (MKS1) | NP_001308198.1:p.Asp19AlafsTer? | |
| NM_001330397.1:c.51_55dup (MKS1) | NP_001317326.1:p.Asp19AlafsTer? | |
| XM_005257485.4:c.-439_-435dup (MKS1) | XP_005257542.1:n.-439_-435dup | |
| XM_006721965.3:c.-461_-457dup (MKS1) | XP_006722028.1:n.-461_-457dup | |
| XM_011524957.2:c.51_55dup (MKS1) | XP_011523259.1:p.Asp19AlafsTer? | |
| XM_011524958.2:c.51_55dup (MKS1) | XP_011523260.1:p.Asp19AlafsTer? | |
| XM_011524959.2:c.51_55dup (MKS1) | XP_011523261.1:p.Asp19AlafsTer? | |
| XM_011524960.2:c.51_55dup (MKS1) | XP_011523262.1:p.Asp19AlafsTer? | |
| XM_017024804.2:c.51_55dup (MKS1) | XP_016880293.1:p.Asp19AlafsTer? | |
| XM_017024805.1:c.-439_-435dup (MKS1) | XP_016880294.1:n.-439_-435dup | |
| XR_002958042.1:n.96_100dup (MKS1) | ||
| NM_001321268.2:c.-461_-457dup (MKS1) | NP_001308197.1:n.-461_-457dup | |
| NM_001321269.2:c.51_55dup (MKS1) | NP_001308198.1:p.Asp19AlafsTer? | |
| NM_001330397.2:c.51_55dup (MKS1) | NP_001317326.1:p.Asp19AlafsTer? | |
| NM_017777.4:c.51_55dup (MKS1) MANE Select | NP_060247.2:p.Asp19AlafsTer? |