Linked Data
ClinVar Variation Id:
252145
ClinVar RCV Id:
RCV000237991
dbSNP Id:
rs879255096
MyVariant Identifiers:
chr19:g.11230908_11230909delinsC (hg19)
chr19:g.11120232_11120233delinsC (hg38)
PubMed:
PMID:17142622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120232_11120233delinsC , CM000681.2:g.11120232_11120233delinsC | GRCh38 |
| NC_000019.9:g.11230908_11230909delinsC , CM000681.1:g.11230908_11230909delinsC | GRCh37 |
| NC_000019.8:g.11091908_11091909delinsC | NCBI36 |
| NG_009060.1:g.35852_35853delinsC , LRG_274:g.35852_35853delinsC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2244_2245delinsC | ENSP00000252444.6:p.Arg748SerfsTer3 | |
| ENST00000559340.2:c.*55_*56delinsC | ENSP00000453696.2:n.*55_*56delinsC | |
| ENST00000560467.2:c.1866_1867delinsC | ENSP00000453513.2:p.Arg622SerfsTer3 | |
| ENST00000558518.6:c.1986_1987delinsC MANE Select | ENSP00000454071.1:p.Arg662SerfsTer3 | |
| ENST00000252444.9:c.2240_2241delinsC | ||
| ENST00000455727.6:c.1482_1483delinsC | ENSP00000397829.2:p.Arg494SerfsTer3 | |
| ENST00000535915.5:c.1863_1864delinsC | ENSP00000440520.1:p.Arg621SerfsTer3 | |
| ENST00000545707.5:c.1605_1606delinsC | ENSP00000437639.1:p.Arg535SerfsTer17 | |
| ENST00000557933.5:c.1986_1987delinsC | ENSP00000453557.1:p.Arg662SerfsTer3 | |
| ENST00000558013.5:c.1986_1987delinsC | ENSP00000453346.1:p.Arg662SerfsTer3 | |
| ENST00000558518.5:c.1986_1987delinsC | ENSP00000454071.1:p.Arg662SerfsTer3 | |
| ENST00000559340.1:c.567_568delinsC | ||
| NM_000527.4:c.1986_1987delinsC , LRG_274t1:c.1986_1987delinsC | NP_000518.1:p.Arg662SerfsTer3 | |
| NM_001195798.1:c.1986_1987delinsC | NP_001182727.1:p.Arg662SerfsTer3 | |
| NM_001195799.1:c.1863_1864delinsC | NP_001182728.1:p.Arg621SerfsTer3 | |
| NM_001195800.1:c.1482_1483delinsC | NP_001182729.1:p.Arg494SerfsTer3 | |
| NM_001195803.1:c.1605_1606delinsC | NP_001182732.1:p.Arg535SerfsTer17 | |
| XM_011528010.1:c.1986_1987delinsC | XP_011526312.1:p.Arg662SerfsTer3 | |
| XM_011528011.1:c.1605_1606delinsC | XP_011526313.1:p.Arg535SerfsTer3 | |
| XR_244074.2:n.1996_1997delinsC | ||
| XM_011528010.2:c.1986_1987delinsC | XP_011526312.1:p.Arg662SerfsTer3 | |
| XR_001753685.2:n.2103_2104delinsC | ||
| XR_001753686.2:n.1963_1964delinsC | ||
| NM_000527.5:c.1986_1987delinsC MANE Select | NP_000518.1:p.Arg662SerfsTer3 | |
| NM_001195798.2:c.1986_1987delinsC | NP_001182727.1:p.Arg662SerfsTer3 | |
| NM_001195799.2:c.1863_1864delinsC | NP_001182728.1:p.Arg621SerfsTer3 | |
| NM_001195800.2:c.1482_1483delinsC | NP_001182729.1:p.Arg494SerfsTer3 | |
| NM_001195803.2:c.1605_1606delinsC | NP_001182732.1:p.Arg535SerfsTer17 |