Linked Data
ClinVar Variation Id:
100612
ClinVar RCV Id:
RCV000162284
dbSNP Id:
rs483352874
ExAC:
1:31842214 CCT / C
gnomAD v2:
1-31842214-CCT-C
gnomAD v3:
1-31369367-CCT-C
gnomAD v4:
1-31369367-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.31369368_31369369del , CM000663.2:g.31369368_31369369del | GRCh38 |
| NC_000001.10:g.31842215_31842216del , CM000663.1:g.31842215_31842216del | GRCh37 |
| NC_000001.9:g.31614802_31614803del | NCBI36 |
| NG_047049.1:g.8915_8916del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373713.7:c.246+16_246+17del MANE Select | ENSP00000362817.2:n.246+16_246+17del | |
| ENST00000373713.6:c.246+16_246+17del | ENSP00000362817.2:n.246+16_246+17del | |
| ENST00000482018.1:c.246+16_246+17del | ENSP00000473982.1:n.246+16_246+17del | |
| ENST00000497275.5:n.206+16_206+17del | ||
| ENST00000498148.5:c.246+16_246+17del | ENSP00000474078.1:n.246+16_246+17del | |
| NM_004102.3:c.246+16_246+17del | NP_004093.1:n.246+16_246+17del | |
| XM_011541007.1:c.246+16_246+17del | XP_011539309.1:n.246+16_246+17del | |
| NM_001320996.1:c.279+16_279+17del | NP_001307925.1:n.279+16_279+17del | |
| NM_004102.4:c.246+16_246+17del | NP_004093.1:n.246+16_246+17del | |
| XM_011541007.3:c.246+16_246+17del | XP_011539309.1:n.246+16_246+17del | |
| NM_004102.5:c.246+16_246+17del MANE Select | NP_004093.1:n.246+16_246+17del | |
| NM_001320996.2:c.279+16_279+17del | NP_001307925.1:n.279+16_279+17del |