Linked Data
ClinVar Variation Id:
1632631
ClinVar RCV Id:
RCV002119160
dbSNP Id:
rs747880187
ExAC:
14:74951099 CAAT / C
gnomAD v2:
14-74951099-CAAT-C
gnomAD v4:
14-74484396-CAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74484400_74484402del , CM000676.2:g.74484400_74484402del | GRCh38 |
| NC_000014.8:g.74951103_74951105del , CM000676.1:g.74951103_74951105del | GRCh37 |
| NC_000014.7:g.74020856_74020858del | NCBI36 |
| NG_007117.1:g.13983_13985del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.363+16_363+18del MANE Select | ENSP00000451112.2:n.363+16_363+18del | |
| ENST00000238633.6:c.363+16_363+18del | ENSP00000238633.2:n.363+16_363+18del | |
| ENST00000434013.6:c.363+16_363+18del | ENSP00000412103.2:n.363+16_363+18del | |
| ENST00000541064.5:c.363+16_363+18del | ENSP00000442488.1:n.363+16_363+18del | |
| ENST00000553490.5:c.363+16_363+18del | ENSP00000451180.1:n.363+16_363+18del | |
| ENST00000554482.1:c.158+1930_158+1932del | ENSP00000451314.1:n.158+1930_158+1932del | |
| ENST00000555619.5:c.363+16_363+18del | ENSP00000451112.1:n.363+16_363+18del | |
| ENST00000556009.5:c.428+16_428+18del | ||
| ENST00000557510.5:c.363+16_363+18del | ENSP00000451206.1:n.363+16_363+18del | |
| NM_006432.3:c.363+16_363+18del | NP_006423.1:n.363+16_363+18del | |
| NM_001363688.1:c.363+16_363+18del | NP_001350617.1:n.363+16_363+18del | |
| NM_006432.4:c.363+16_363+18del | NP_006423.1:n.363+16_363+18del | |
| NM_001375440.1:c.363+16_363+18del | NP_001362369.1:n.363+16_363+18del | |
| NM_006432.5:c.363+16_363+18del MANE Select | NP_006423.1:n.363+16_363+18del |