Linked Data
ClinVar Variation Id:
12750
ClinVar RCV Id:
RCV000013587
dbSNP Id:
rs193922739
MyVariant Identifiers:
chr1:g.167408591_167408592delinsCA (hg19)
chr1:g.167439354_167439355delinsCA (hg38)
PubMed:
PMID:16672702
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167439354_167439355delinsCA , CM000663.2:g.167439354_167439355delinsCA | GRCh38 |
| NC_000001.10:g.167408591_167408592delinsCA , CM000663.1:g.167408591_167408592delinsCA | GRCh37 |
| NC_000001.9:g.165675215_165675216delinsCA | NCBI36 |
| NG_007384.1:g.84255_84256delinsTG , LRG_36:g.84255_84256delinsTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392122.4:c.208_209delinsTG | ENSP00000375969.3:p.Gln70Trp | |
| ENST00000470379.2:c.-78_-77delinsTG | ENSP00000514807.1:n.-78_-77delinsTG | |
| ENST00000476733.6:c.-78_-77delinsTG | ENSP00000514806.1:n.-78_-77delinsTG | |
| ENST00000483825.6:n.272_273delinsTG | ||
| ENST00000700105.1:c.208_209delinsTG | ENSP00000514800.1:p.Gln70Trp | |
| ENST00000700106.1:c.232_233delinsTG | ENSP00000514802.1:p.Gln78Trp | |
| ENST00000700107.1:c.232_233delinsTG | ENSP00000514803.1:p.Gln78Trp | |
| ENST00000700108.1:c.-78_-77delinsTG | ENSP00000514804.1:n.-78_-77delinsTG | |
| ENST00000700109.1:c.-78_-77delinsTG | ENSP00000514805.1:n.-78_-77delinsTG | |
| ENST00000700111.1:n.272_273delinsTG | ||
| ENST00000700112.1:n.546_547delinsTG | ||
| ENST00000700113.1:c.*489_*490delinsTG | ENSP00000514838.1:n.*489_*490delinsTG | |
| ENST00000700134.1:c.208_209delinsTG | ENSP00000514822.1:p.Gln70Trp | |
| ENST00000700135.1:n.699_700delinsTG | ||
| ENST00000700137.1:n.433_434delinsTG | ||
| ENST00000700138.1:n.234_235delinsTG | ||
| ENST00000700139.1:n.333_334delinsTG | ||
| ENST00000700140.1:n.293_294delinsTG | ||
| ENST00000700141.1:n.293_294delinsTG | ||
| ENST00000700142.1:c.208_209delinsTG | ENSP00000514823.1:p.Gln70Trp | |
| ENST00000700143.1:n.172_173delinsTG | ||
| ENST00000700155.1:c.-78_-77delinsTG | ENSP00000514827.1:n.-78_-77delinsTG | |
| ENST00000700156.1:c.-78_-77delinsTG | ENSP00000514828.1:n.-78_-77delinsTG | |
| ENST00000700157.1:c.52_53delinsTG | ENSP00000514829.1:p.Gln18Trp | |
| ENST00000700158.1:c.-78_-77delinsTG | ENSP00000514830.1:n.-78_-77delinsTG | |
| ENST00000700159.1:c.208_209delinsTG | ENSP00000514831.1:p.Gln70Trp | |
| ENST00000700160.1:c.-78_-77delinsTG | ENSP00000514832.1:n.-78_-77delinsTG | |
| ENST00000700161.1:c.-78_-77delinsTG | ENSP00000514833.1:n.-78_-77delinsTG | |
| ENST00000700165.1:c.208_209delinsTG | ENSP00000514836.1:p.Gln70Trp | |
| ENST00000700166.1:n.204_205delinsTG | ||
| ENST00000700167.1:c.208_209delinsTG | ENSP00000514837.1:p.Gln70Trp | |
| ENST00000362089.10:c.208_209delinsTG MANE Select | ENSP00000354782.5:p.Gln70Trp | |
| ENST00000362089.9:c.208_209delinsTG | ENSP00000354782.5:p.Gln70Trp | |
| ENST00000392122.3:c.208_209delinsTG | ENSP00000375969.3:p.Gln70Trp | |
| ENST00000470379.1:n.286_287delinsTG | ||
| ENST00000476733.5:n.267_268delinsTG | ||
| ENST00000483825.5:n.272_273delinsTG | ||
| NM_000734.3:c.208_209delinsTG | NP_000725.1:p.Gln70Trp | |
| NM_198053.2:c.208_209delinsTG , LRG_36t1:c.208_209delinsTG | NP_932170.1:p.Gln70Trp | |
| XM_011510144.1:c.232_233delinsTG | XP_011508446.1:p.Gln78Trp | |
| XM_011510145.1:c.232_233delinsTG | XP_011508447.1:p.Gln78Trp | |
| XM_011510144.2:c.232_233delinsTG | XP_011508446.1:p.Gln78Trp | |
| XM_017002800.1:c.301_302delinsTG | XP_016858289.1:p.Gln101Trp | |
| XM_017002801.1:c.301_302delinsTG | XP_016858290.1:p.Gln101Trp | |
| NM_000734.4:c.208_209delinsTG | NP_000725.1:p.Gln70Trp | |
| NM_001378515.1:c.301_302delinsTG | NP_001365444.1:p.Gln101Trp | |
| NM_001378516.1:c.301_302delinsTG | NP_001365445.1:p.Gln101Trp | |
| NM_198053.3:c.208_209delinsTG MANE Select | NP_932170.1:p.Gln70Trp |