Linked Data
ClinVar Variation Id:
55799
ClinVar RCV Id:
RCV000049230
dbSNP Id:
rs397509345
MyVariant Identifiers:
chr12:g.112926897_112926898delinsCC (hg19)
chr12:g.112489093_112489094delinsCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489093_112489094delinsCC , CM000674.2:g.112489093_112489094delinsCC | GRCh38 |
| NC_000012.11:g.112926897_112926898delinsCC , CM000674.1:g.112926897_112926898delinsCC | GRCh37 |
| NC_000012.10:g.111411280_111411281delinsCC | NCBI36 |
| NG_007459.1:g.75362_75363delinsCC , LRG_614:g.75362_75363delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1517_1518delinsCC | ENSP00000491593.2:p.Gln506Pro | |
| ENST00000685487.1:c.1517_1518delinsCC | ENSP00000508503.1:p.Gln506Pro | |
| ENST00000687624.1:n.182_183delinsCC | ||
| ENST00000687906.1:c.1403_1404delinsCC | ENSP00000509536.1:p.Gln468Pro | |
| ENST00000688597.1:c.1224+6888_1224+6889delinsCC | ENSP00000510628.1:n.1224+6888_1224+6889delinsCC | |
| ENST00000688701.1:n.761_762delinsCC | ||
| ENST00000690210.1:c.1517_1518delinsCC | ENSP00000509272.1:p.Gln506Pro | |
| ENST00000690472.1:n.726_727delinsCC | ||
| ENST00000692624.1:c.*63_*64delinsCC | ENSP00000508953.1:n.*63_*64delinsCC | |
| ENST00000351677.7:c.1517_1518delinsCC MANE Select | ENSP00000340944.3:p.Gln506Pro | |
| ENST00000351677.6:c.1517_1518delinsCC | ENSP00000340944.2:p.Gln506Pro | |
| ENST00000635625.1:c.1529_1530delinsCC | ENSP00000489597.1:p.Gln510Pro | |
| ENST00000635652.1:c.530_531delinsCC | ENSP00000489541.1:p.Gln177Pro | |
| NM_002834.3:c.1517_1518delinsCC , LRG_614t1:c.1517_1518delinsCC | NP_002825.3:p.Gln506Pro | |
| XM_006719526.1:c.1529_1530delinsCC | XP_006719589.1:p.Gln510Pro | |
| XM_006719527.1:c.1415_1416delinsCC | XP_006719590.1:p.Gln472Pro | |
| XM_011538613.1:c.1526_1527delinsCC | XP_011536915.1:p.Gln509Pro | |
| NM_001330437.1:c.1529_1530delinsCC | NP_001317366.1:p.Gln510Pro | |
| NM_002834.4:c.1517_1518delinsCC | NP_002825.3:p.Gln506Pro | |
| XM_011538613.2:c.1526_1527delinsCC | XP_011536915.1:p.Gln509Pro | |
| XM_017019722.1:c.1514_1515delinsCC | XP_016875211.1:p.Gln505Pro | |
| NM_001330437.2:c.1529_1530delinsCC | NP_001317366.1:p.Gln510Pro | |
| NM_001374625.1:c.1514_1515delinsCC | NP_001361554.1:p.Gln505Pro | |
| NM_002834.5:c.1517_1518delinsCC MANE Select | NP_002825.3:p.Gln506Pro |