Linked Data
ClinVar Variation Id:
2736487
ClinVar RCV Id:
RCV003559986
dbSNP Id:
rs80338769
ExAC:
17:26732938 G / GC
gnomAD v2:
17-26732938-G-GC
gnomAD v3:
17-28405920-G-GC
gnomAD v4:
17-28405920-G-GC
COSMIC:
COSM4772046
MyVariant Identifiers:
chr17:g.26732939dupC (hg19)
chr17:g.26732939_26732940insC (hg19)
chr17:g.26732938_26732939insC (hg19)
chr17:g.28405921dupC (hg38)
chr17:g.28405920_28405921insC (hg38)
PubMed:
PMID:20301716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405927dup , CM000679.2:g.28405927dup | GRCh38 |
| NC_000017.10:g.26732945dup , CM000679.1:g.26732945dup | GRCh37 |
| NC_000017.9:g.23757072dup | NCBI36 |
| NG_013306.1:g.5290dup , LRG_183:g.5290dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612814.5:c.194dup MANE Select | ENSP00000480703.1:p.Cys66LeufsTer? | |
| ENST00000581516.1:c.-29dup | ENSP00000462942.1:n.-29dup | |
| ENST00000582590.1:n.248dup | ||
| ENST00000584426.1:c.-36-453dup | ENSP00000467416.1:n.-36-453dup | |
| ENST00000584995.5:c.-29dup | ENSP00000464190.1:n.-29dup | |
| ENST00000612814.4:c.194dup | ENSP00000480703.1:p.Cys66LeufsTer? | |
| ENST00000618626.1:c.194dup | ENSP00000483652.1:p.Cys66LeufsTer? | |
| NM_001242366.2:c.194dup | NP_001229295.1:p.Cys66LeufsTer? | |
| NM_080669.5:c.194dup | NP_542400.2:p.Cys66LeufsTer? | |
| XM_005277786.2:c.194dup | XP_005277843.1:p.Cys66LeufsTer? | |
| XR_934643.1:n.89+476dup | ||
| XM_005277786.3:c.194dup | XP_005277843.1:p.Cys66LeufsTer? | |
| XM_017024110.1:c.-29dup | XP_016879599.1:n.-29dup | |
| NM_080669.6:c.194dup MANE Select | NP_542400.2:p.Cys66LeufsTer? | |
| NM_001242366.3:c.194dup | NP_001229295.1:p.Cys66LeufsTer? |