Linked Data
ClinVar Variation Id:
126465
ClinVar RCV Id:
RCV000202461
dbSNP Id:
rs515726155
MyVariant Identifiers:
chr12:g.110231751_110231753dupAGG (hg19)
chr12:g.109793946_109793948dupAGG (hg38)
PubMed:
PMID:24830047
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109793947_109793949dup , CM000674.2:g.109793947_109793949dup | GRCh38 |
| NC_000012.11:g.110231752_110231754dup , CM000674.1:g.110231752_110231754dup | GRCh37 |
| NC_000012.10:g.108716135_108716137dup | NCBI36 |
| NG_017090.1:g.44460_44462dup , LRG_372:g.44460_44462dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261740.7:c.1566_1568dup MANE Select | ENSP00000261740.2:p.Leu523_Phe524insLeu | |
| ENST00000418703.7:c.1566_1568dup | ENSP00000406191.2:p.Leu523_Phe524insLeu | |
| ENST00000674908.1:c.*653_*655dup | ENSP00000502012.1:n.*653_*655dup | |
| ENST00000675533.1:n.1597_1599dup | ||
| ENST00000675670.1:c.1566_1568dup | ENSP00000502135.1:p.Leu523_Phe524insLeu | |
| ENST00000676376.1:n.1597_1599dup | ||
| ENST00000261740.6:c.1566_1568dup | ENSP00000261740.2:p.Leu523_Phe524insLeu | |
| ENST00000418703.6:c.1566_1568dup | ENSP00000406191.2:p.Leu523_Phe524insLeu | |
| ENST00000536838.1:c.1464_1466dup | ENSP00000444336.1:p.Leu489_Phe490insLeu | |
| ENST00000537083.5:c.1386_1388dup | ENSP00000442738.1:p.Leu463_Phe464insLeu | |
| ENST00000538125.5:c.1566_1568dup | ENSP00000437449.1:p.Leu523_Phe524insLeu | |
| ENST00000541794.5:c.1425_1427dup | ENSP00000442167.1:p.Leu476_Phe477insLeu | |
| ENST00000544971.5:c.1245_1247dup | ENSP00000443611.1:p.Leu416_Phe417insLeu | |
| NM_001177428.1:c.1425_1427dup | NP_001170899.1:p.Leu476_Phe477insLeu | |
| NM_001177431.1:c.1464_1466dup | NP_001170902.1:p.Leu489_Phe490insLeu | |
| NM_001177433.1:c.1245_1247dup | NP_001170904.1:p.Leu416_Phe417insLeu | |
| NM_021625.4:c.1566_1568dup , LRG_372t1:c.1566_1568dup | NP_067638.3:p.Leu523_Phe524insLeu | |
| NM_147204.2:c.1386_1388dup | NP_671737.1:p.Leu463_Phe464insLeu | |
| XM_005253918.1:c.1566_1568dup | XP_005253975.1:p.Leu523_Phe524insLeu | |
| XM_011538630.1:c.1566_1568dup | XP_011536932.1:p.Leu523_Phe524insLeu | |
| XM_011538631.1:c.1425_1427dup | XP_011536933.1:p.Leu476_Phe477insLeu | |
| XM_011538632.1:c.1386_1388dup | XP_011536934.1:p.Leu463_Phe464insLeu | |
| XM_011538633.1:c.1245_1247dup | XP_011536935.1:p.Leu416_Phe417insLeu | |
| XM_011538634.1:c.1566_1568dup | XP_011536936.1:p.Leu523_Phe524insLeu | |
| XM_011538635.1:c.1719_1721dup | XP_011536937.1:p.Leu574_Phe575insLeu | |
| XM_011538636.1:c.1719_1721dup | XP_011536938.1:p.Leu574_Phe575insLeu | |
| XM_011538630.2:c.1719_1721dup | XP_011536932.2:p.Leu574_Phe575insLeu | |
| XM_011538631.2:c.1578_1580dup | XP_011536933.2:p.Leu527_Phe528insLeu | |
| XM_011538632.2:c.1539_1541dup | XP_011536934.2:p.Leu514_Phe515insLeu | |
| XM_011538633.2:c.1398_1400dup | XP_011536935.2:p.Leu467_Phe468insLeu | |
| XM_011538634.2:c.1719_1721dup | XP_011536936.2:p.Leu574_Phe575insLeu | |
| XM_011538635.2:c.1719_1721dup | XP_011536937.1:p.Leu574_Phe575insLeu | |
| XM_017019774.1:c.1566_1568dup | XP_016875263.1:p.Leu523_Phe524insLeu | |
| NM_021625.5:c.1566_1568dup MANE Select | NP_067638.3:p.Leu523_Phe524insLeu |