Linked Data
ClinVar Variation Id:
430749
ClinVar RCV Id:
RCV000495885
dbSNP Id:
rs1131692191
MyVariant Identifiers:
chr19:g.11213400_11213401insCATTCTG (hg19)
chr19:g.11102724_11102725insCATTCTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102724_11102725insCATTCTG , CM000681.2:g.11102724_11102725insCATTCTG | GRCh38 |
| NC_000019.9:g.11213400_11213401insCATTCTG , CM000681.1:g.11213400_11213401insCATTCTG | GRCh37 |
| NC_000019.8:g.11074400_11074401insCATTCTG | NCBI36 |
| NG_009060.1:g.18344_18345insCATTCTG , LRG_274:g.18344_18345insCATTCTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.509_510insCATTCTG | ENSP00000252444.6:p.Gln171IlefsTer? | |
| ENST00000559340.2:c.251_252insCATTCTG | ENSP00000453696.2:p.Gln85IlefsTer? | |
| ENST00000560467.2:c.251_252insCATTCTG | ENSP00000453513.2:p.Gln85IlefsTer? | |
| ENST00000558518.6:c.251_252insCATTCTG MANE Select | ENSP00000454071.1:p.Gln85IlefsTer? | |
| ENST00000252444.9:c.505_506insCATTCTG | ||
| ENST00000455727.6:c.251_252insCATTCTG | ENSP00000397829.2:p.Gln85IlefsTer? | |
| ENST00000535915.5:c.190+2379_190+2380insCATTCTG | ENSP00000440520.1:n.190+2379_190+2380insC... | |
| ENST00000545707.5:c.251_252insCATTCTG | ENSP00000437639.1:p.Gln85IlefsTer30 | |
| ENST00000557933.5:c.251_252insCATTCTG | ENSP00000453557.1:p.Gln85IlefsTer? | |
| ENST00000557958.1:n.337_338insCATTCTG | ||
| ENST00000558013.5:c.251_252insCATTCTG | ENSP00000453346.1:p.Gln85IlefsTer? | |
| ENST00000558518.5:c.251_252insCATTCTG | ENSP00000454071.1:p.Gln85IlefsTer? | |
| NM_000527.4:c.251_252insCATTCTG , LRG_274t1:c.251_252insCATTCTG | NP_000518.1:p.Gln85IlefsTer? | |
| NM_001195798.1:c.251_252insCATTCTG | NP_001182727.1:p.Gln85IlefsTer? | |
| NM_001195799.1:c.190+2379_190+2380insCATTCTG | NP_001182728.1:n.190+2379_190+2380insCATT... | |
| NM_001195800.1:c.251_252insCATTCTG | NP_001182729.1:p.Gln85IlefsTer? | |
| NM_001195803.1:c.251_252insCATTCTG | NP_001182732.1:p.Gln85IlefsTer30 | |
| XM_011528010.1:c.251_252insCATTCTG | XP_011526312.1:p.Gln85IlefsTer? | |
| XM_011528011.1:c.251_252insCATTCTG | XP_011526313.1:p.Gln85IlefsTer30 | |
| XR_244074.2:n.401_402insCATTCTG | ||
| XM_011528010.2:c.251_252insCATTCTG | XP_011526312.1:p.Gln85IlefsTer? | |
| XR_001753685.2:n.368_369insCATTCTG | ||
| XR_001753686.2:n.368_369insCATTCTG | ||
| NM_000527.5:c.251_252insCATTCTG MANE Select | NP_000518.1:p.Gln85IlefsTer? | |
| NM_001195798.2:c.251_252insCATTCTG | NP_001182727.1:p.Gln85IlefsTer? | |
| NM_001195799.2:c.190+2379_190+2380insCATTCTG | NP_001182728.1:n.190+2379_190+2380insCATT... | |
| NM_001195800.2:c.251_252insCATTCTG | NP_001182729.1:p.Gln85IlefsTer? | |
| NM_001195803.2:c.251_252insCATTCTG | NP_001182732.1:p.Gln85IlefsTer30 |