Linked Data
ClinVar Variation Id:
39615
ClinVar RCV Id:
RCV000032816
dbSNP Id:
rs1057519017
MyVariant Identifiers:
chr4:g.113568872_113568878dupAAGGATA (hg19)
chr4:g.112647716_112647722dupAAGGATA (hg38)
PubMed:
PMID:22865833
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112647716_112647722dup , CM000666.2:g.112647716_112647722dup | GRCh38 |
| NC_000004.11:g.113568872_113568878dup , CM000666.1:g.113568872_113568878dup | GRCh37 |
| NC_000004.10:g.113788321_113788327dup | NCBI36 |
| NG_032779.1:g.15753_15759dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000505034.6:c.1024_1030dup (LARP7) | ENSP00000421541.2:p.Thr344LysfsTer9 | |
| ENST00000505216.2:c.*783_*789dup (LARP7) | ENSP00000424116.1:n.*783_*789dup | |
| ENST00000694891.1:c.1021_1027dup (LARP7) | ENSP00000511571.1:p.Thr343LysfsTer9 | |
| ENST00000694894.1:c.1024_1030dup (LARP7) | ENSP00000511572.1:p.Thr344LysfsTer9 | |
| ENST00000694895.1:c.1024_1030dup (LARP7) | ENSP00000511573.1:p.Thr344LysfsTer9 | |
| ENST00000694896.1:c.1063_1069dup (LARP7) | ENSP00000511574.1:p.Thr357LysfsTer9 | |
| ENST00000694897.1:c.*423_*429dup (LARP7) | ENSP00000511575.1:n.*423_*429dup | |
| ENST00000694898.1:c.1063_1069dup (LARP7) | ENSP00000511576.1:p.Thr357LysfsTer9 | |
| ENST00000694899.1:c.1021_1027dup (LARP7) | ENSP00000511577.1:p.Thr343LysfsTer9 | |
| ENST00000694900.1:c.1018_1024dup (LARP7) | ENSP00000511578.1:p.Thr342LysfsTer9 | |
| ENST00000694901.1:c.*783_*789dup (LARP7) | ENSP00000511579.1:n.*783_*789dup | |
| ENST00000511529.2:c.1060_1066dup (LARP7) | ENSP00000426376.2:p.Thr356LysfsTer9 | |
| ENST00000512361.2:n.1204_1210dup (LARP7) | ||
| ENST00000512589.6:c.*830_*836dup (LARP7) | ENSP00000426709.1:n.*830_*836dup | |
| ENST00000684864.1:c.1024_1030dup (LARP7) | ENSP00000509993.1:p.Thr344LysfsTer9 | |
| ENST00000688617.1:n.1298_1304dup (LARP7) | ||
| ENST00000689262.1:n.2175_2181dup (LARP7) | ||
| ENST00000689844.1:c.1063_1069dup (LARP7) | ENSP00000509899.1:p.Thr357LysfsTer9 | |
| ENST00000690008.1:c.*783_*789dup (LARP7) | ENSP00000508938.1:n.*783_*789dup | |
| ENST00000692075.1:n.1260_1266dup (LARP7) | ||
| ENST00000692168.1:n.1190_1196dup (LARP7) | ||
| ENST00000692416.1:c.787_793dup (LARP7) | ENSP00000509527.1:p.Thr265LysfsTer9 | |
| ENST00000693375.1:c.787_793dup (LARP7) | ENSP00000508585.1:p.Thr265LysfsTer9 | |
| ENST00000693442.1:c.1024_1030dup (LARP7) | ENSP00000509975.1:p.Thr344LysfsTer9 | |
| ENST00000344442.10:c.1024_1030dup (LARP7) MANE Select | ENSP00000344950.5:p.Thr344LysfsTer9 | |
| ENST00000651579.1:c.1024_1030dup (LARP7) | ENSP00000499190.1:p.Thr344LysfsTer9 | |
| ENST00000324052.10:c.1024_1030dup (LARP7) | ENSP00000314311.6:p.Thr344LysfsTer9 | |
| ENST00000344442.9:c.1024_1030dup (LARP7) | ENSP00000344950.5:p.Thr344LysfsTer9 | |
| ENST00000509061.5:c.1045_1051dup (LARP7) | ENSP00000422626.1:p.Thr351LysfsTer9 | |
| ENST00000509622.5:c.*783_*789dup (LARP7) | ENSP00000422451.1:n.*783_*789dup | |
| ENST00000511529.1:c.405_411dup (LARP7) | ||
| ENST00000513553.5:c.31-3_34dup (LARP7) | ||
| NM_001267039.1:c.1045_1051dup (LARP7) | NP_001253968.1:p.Thr351LysfsTer9 | |
| NM_015454.2:c.1024_1030dup (LARP7) | NP_056269.1:p.Thr344LysfsTer9 | |
| NM_016648.3:c.1024_1030dup (LARP7) | NP_057732.2:p.Thr344LysfsTer9 | |
| NR_049768.1:n.1199_1205dup (LARP7) | ||
| NR_146092.1:n.148-753_148-747dup (MIR302CHG) | ||
| NR_146093.1:n.51-254_51-248dup (MIR302CHG) | ||
| NR_146094.1:n.51-753_51-747dup (MIR302CHG) | ||
| XM_024454080.1:c.1063_1069dup (LARP7) | XP_024309848.1:p.Thr357LysfsTer9 | |
| XM_024454081.1:c.1063_1069dup (LARP7) | XP_024309849.1:p.Thr357LysfsTer9 | |
| XM_024454082.1:c.1063_1069dup (LARP7) | XP_024309850.1:p.Thr357LysfsTer9 | |
| XM_024454083.1:c.1063_1069dup (LARP7) | XP_024309851.1:p.Thr357LysfsTer9 | |
| XM_024454084.1:c.1024_1030dup (LARP7) | XP_024309852.1:p.Thr344LysfsTer9 | |
| XM_024454085.1:c.1024_1030dup (LARP7) | XP_024309853.1:p.Thr344LysfsTer9 | |
| XM_024454086.1:c.826_832dup (LARP7) | XP_024309854.1:p.Thr278LysfsTer9 | |
| XM_024454087.1:c.826_832dup (LARP7) | XP_024309855.1:p.Thr278LysfsTer9 | |
| XM_024454088.1:c.787_793dup (LARP7) | XP_024309856.1:p.Thr265LysfsTer9 | |
| XM_024454089.1:c.382_388dup (LARP7) | XP_024309857.1:p.Thr130LysfsTer9 | |
| NM_016648.4:c.1024_1030dup (LARP7) MANE Select | NP_057732.2:p.Thr344LysfsTer9 | |
| NM_001370974.1:c.1063_1069dup (LARP7) | NP_001357903.1:p.Thr357LysfsTer9 | |
| NM_001370975.1:c.1063_1069dup (LARP7) | NP_001357904.1:p.Thr357LysfsTer9 | |
| NM_001370976.1:c.1060_1066dup (LARP7) | NP_001357905.1:p.Thr356LysfsTer9 | |
| NM_001370977.1:c.1060_1066dup (LARP7) | NP_001357906.1:p.Thr356LysfsTer9 | |
| NM_001370978.1:c.1024_1030dup (LARP7) | NP_001357907.1:p.Thr344LysfsTer9 | |
| NM_001370979.1:c.1021_1027dup (LARP7) | NP_001357908.1:p.Thr343LysfsTer9 | |
| NM_001370980.1:c.1021_1027dup (LARP7) | NP_001357909.1:p.Thr343LysfsTer9 | |
| NM_001370981.1:c.787_793dup (LARP7) | NP_001357910.1:p.Thr265LysfsTer9 | |
| NM_001370982.1:c.787_793dup (LARP7) | NP_001357911.1:p.Thr265LysfsTer9 | |
| NM_001267039.2:c.1045_1051dup (LARP7) | NP_001253968.1:p.Thr351LysfsTer9 | |
| NM_015454.3:c.1024_1030dup (LARP7) | NP_056269.1:p.Thr344LysfsTer9 | |
| NM_001267039.4:c.1024_1030dup (LARP7) | NP_001253968.2:p.Thr344LysfsTer9 |