Linked Data
ClinVar Variation Id:
183329
ClinVar RCV Id:
RCV000162152
dbSNP Id:
rs730882232
MyVariant Identifiers:
chr4:g.5564609_5564632dup24 (hg19)
chr4:g.5564608_5564609insGCATTCAAAAAGTTCTTCTTTTTC (hg19)
chr4:g.5562882_5562905dup24 (hg38)
chr4:g.5562881_5562882insGCATTCAAAAAGTTCTTCTTTTTC (hg38)
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5562882_5562905dup , CM000666.2:g.5562882_5562905dup | GRCh38 |
| NC_000004.11:g.5564609_5564632dup , CM000666.1:g.5564609_5564632dup | GRCh37 |
| NC_000004.10:g.5615510_5615533dup | NCBI36 |
| NG_015821.1:g.151644_151667dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344408.10:c.3870_3893dup MANE Select | ENSP00000342144.5:p.Ala1298_Lys1299insLys... | |
| ENST00000310917.6:c.3630_3653dup | ENSP00000311683.2:p.Ala1218_Lys1219insLys... | |
| ENST00000344408.9:c.3870_3893dup | ENSP00000342144.5:p.Ala1298_Lys1299insLys... | |
| ENST00000475313.5:c.3419+2353_3419+2376dup | ENSP00000431981.1:n.3419+2353_3419+2376du... | |
| ENST00000509670.1:c.*2263_*2286dup | ENSP00000423876.1:n.*2263_*2286dup | |
| NM_001166136.1:c.3630_3653dup | NP_001159608.1:p.Ala1218_Lys1219insLysLys... | |
| NM_147127.4:c.3870_3893dup | NP_667338.3:p.Ala1298_Lys1299insLysLysLys... | |
| XM_011513392.1:c.3879_3902dup | XP_011511694.1:p.Ala1301_Lys1302insLysLys... | |
| XM_011513393.1:c.3668+2353_3668+2376dup | XP_011511695.1:n.3668+2353_3668+2376dup | |
| XM_011513394.1:c.3639_3662dup | XP_011511696.1:p.Ala1221_Lys1222insLysLys... | |
| XM_017007736.1:c.3630_3653dup | XP_016863225.1:p.Ala1218_Lys1219insLysLys... | |
| XM_017007737.1:c.3630_3653dup | XP_016863226.1:p.Ala1218_Lys1219insLysLys... | |
| XM_017007739.1:c.2190_2213dup | XP_016863228.1:p.Ala738_Lys739insLysLysLy... | |
| XM_024453893.1:c.2190_2213dup | XP_024309661.1:p.Ala738_Lys739insLysLysLy... | |
| XR_001741141.1:n.3720_3743dup | ||
| NM_147127.5:c.3870_3893dup MANE Select | NP_667338.3:p.Ala1298_Lys1299insLysLysLys... | |
| NM_001166136.2:c.3630_3653dup | NP_001159608.1:p.Ala1218_Lys1219insLysLys... |