Linked Data
ClinVar Variation Id:
12752
ClinVar RCV Id:
RCV000013589
dbSNP Id:
rs193922741
MyVariant Identifiers:
chr1:g.167408590_167408592delinsATA (hg19)
chr1:g.167439353_167439355delinsATA (hg38)
PubMed:
PMID:16672702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167439353_167439355delinsATA , CM000663.2:g.167439353_167439355delinsATA | GRCh38 |
| NC_000001.10:g.167408590_167408592delinsATA , CM000663.1:g.167408590_167408592delinsATA | GRCh37 |
| NC_000001.9:g.165675214_165675216delinsATA | NCBI36 |
| NG_007384.1:g.84255_84257delinsTAT , LRG_36:g.84255_84257delinsTAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392122.4:c.208_210delinsTAT | ENSP00000375969.3:p.Gln70Tyr | |
| ENST00000470379.2:c.-78_-76delinsTAT | ENSP00000514807.1:n.-78_-76delinsTAT | |
| ENST00000476733.6:c.-78_-76delinsTAT | ENSP00000514806.1:n.-78_-76delinsTAT | |
| ENST00000483825.6:n.272_274delinsTAT | ||
| ENST00000700105.1:c.208_210delinsTAT | ENSP00000514800.1:p.Gln70Tyr | |
| ENST00000700106.1:c.232_234delinsTAT | ENSP00000514802.1:p.Gln78Tyr | |
| ENST00000700107.1:c.232_234delinsTAT | ENSP00000514803.1:p.Gln78Tyr | |
| ENST00000700108.1:c.-78_-76delinsTAT | ENSP00000514804.1:n.-78_-76delinsTAT | |
| ENST00000700109.1:c.-78_-76delinsTAT | ENSP00000514805.1:n.-78_-76delinsTAT | |
| ENST00000700111.1:n.272_274delinsTAT | ||
| ENST00000700112.1:n.546_548delinsTAT | ||
| ENST00000700113.1:c.*489_*491delinsTAT | ENSP00000514838.1:n.*489_*491delinsTAT | |
| ENST00000700134.1:c.208_210delinsTAT | ENSP00000514822.1:p.Gln70Tyr | |
| ENST00000700135.1:n.699_701delinsTAT | ||
| ENST00000700137.1:n.433_435delinsTAT | ||
| ENST00000700138.1:n.234_236delinsTAT | ||
| ENST00000700139.1:n.333_335delinsTAT | ||
| ENST00000700140.1:n.293_295delinsTAT | ||
| ENST00000700141.1:n.293_295delinsTAT | ||
| ENST00000700142.1:c.208_210delinsTAT | ENSP00000514823.1:p.Gln70Tyr | |
| ENST00000700143.1:n.172_174delinsTAT | ||
| ENST00000700155.1:c.-78_-76delinsTAT | ENSP00000514827.1:n.-78_-76delinsTAT | |
| ENST00000700156.1:c.-78_-76delinsTAT | ENSP00000514828.1:n.-78_-76delinsTAT | |
| ENST00000700157.1:c.52_54delinsTAT | ENSP00000514829.1:p.Gln18Tyr | |
| ENST00000700158.1:c.-78_-76delinsTAT | ENSP00000514830.1:n.-78_-76delinsTAT | |
| ENST00000700159.1:c.208_210delinsTAT | ENSP00000514831.1:p.Gln70Tyr | |
| ENST00000700160.1:c.-78_-76delinsTAT | ENSP00000514832.1:n.-78_-76delinsTAT | |
| ENST00000700161.1:c.-78_-76delinsTAT | ENSP00000514833.1:n.-78_-76delinsTAT | |
| ENST00000700165.1:c.208_210delinsTAT | ENSP00000514836.1:p.Gln70Tyr | |
| ENST00000700166.1:n.204_206delinsTAT | ||
| ENST00000700167.1:c.208_210delinsTAT | ENSP00000514837.1:p.Gln70Tyr | |
| ENST00000362089.10:c.208_210delinsTAT MANE Select | ENSP00000354782.5:p.Gln70Tyr | |
| ENST00000362089.9:c.208_210delinsTAT | ENSP00000354782.5:p.Gln70Tyr | |
| ENST00000392122.3:c.208_210delinsTAT | ENSP00000375969.3:p.Gln70Tyr | |
| ENST00000470379.1:n.286_288delinsTAT | ||
| ENST00000476733.5:n.267_269delinsTAT | ||
| ENST00000483825.5:n.272_274delinsTAT | ||
| NM_000734.3:c.208_210delinsTAT | NP_000725.1:p.Gln70Tyr | |
| NM_198053.2:c.208_210delinsTAT , LRG_36t1:c.208_210delinsTAT | NP_932170.1:p.Gln70Tyr | |
| XM_011510144.1:c.232_234delinsTAT | XP_011508446.1:p.Gln78Tyr | |
| XM_011510145.1:c.232_234delinsTAT | XP_011508447.1:p.Gln78Tyr | |
| XM_011510144.2:c.232_234delinsTAT | XP_011508446.1:p.Gln78Tyr | |
| XM_017002800.1:c.301_303delinsTAT | XP_016858289.1:p.Gln101Tyr | |
| XM_017002801.1:c.301_303delinsTAT | XP_016858290.1:p.Gln101Tyr | |
| NM_000734.4:c.208_210delinsTAT | NP_000725.1:p.Gln70Tyr | |
| NM_001378515.1:c.301_303delinsTAT | NP_001365444.1:p.Gln101Tyr | |
| NM_001378516.1:c.301_303delinsTAT | NP_001365445.1:p.Gln101Tyr | |
| NM_198053.3:c.208_210delinsTAT MANE Select | NP_932170.1:p.Gln70Tyr |