Linked Data
ClinVar Variation Id:
551083
ClinVar RCV Id:
RCV000666048
dbSNP Id:
rs751326594
ExAC:
1:100327041 CAT / C
gnomAD v2:
1-100327041-CAT-C
gnomAD v3:
1-99861485-CAT-C
gnomAD v4:
1-99861485-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99861486_99861487del , CM000663.2:g.99861486_99861487del | GRCh38 |
| NC_000001.10:g.100327042_100327043del , CM000663.1:g.100327042_100327043del | GRCh37 |
| NC_000001.9:g.100099630_100099631del | NCBI36 |
| NG_012865.1:g.16403_16404del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.83-17_83-16del MANE Select | ENSP00000355106.3:n.83-17_83-16del | |
| ENST00000637337.1:n.277_278del | ||
| ENST00000294724.8:c.83-17_83-16del | ENSP00000294724.4:n.83-17_83-16del | |
| ENST00000361302.7:c.35-17_35-16del | ENSP00000354971.3:n.35-17_35-16del | |
| ENST00000361522.4:c.15_16del | ENSP00000354635.4:p.Ala7PhefsTer6 | |
| ENST00000361915.7:c.83-17_83-16del | ENSP00000355106.3:n.83-17_83-16del | |
| ENST00000370161.6:c.35-17_35-16del | ENSP00000359180.2:n.35-17_35-16del | |
| ENST00000370163.7:c.83-17_83-16del | ENSP00000359182.3:n.83-17_83-16del | |
| ENST00000370165.7:c.83-17_83-16del | ENSP00000359184.3:n.83-17_83-16del | |
| NM_000028.2:c.83-17_83-16del | NP_000019.2:n.83-17_83-16del | |
| NM_000642.2:c.83-17_83-16del | NP_000633.2:n.83-17_83-16del | |
| NM_000643.2:c.83-17_83-16del | NP_000634.2:n.83-17_83-16del | |
| NM_000644.2:c.83-17_83-16del | NP_000635.2:n.83-17_83-16del | |
| NM_000645.2:c.15_16del | NP_000636.2:p.Ala7PhefsTer6 | |
| NM_000646.2:c.35-17_35-16del | NP_000637.2:n.35-17_35-16del | |
| XM_005270557.1:c.83-17_83-16del | XP_005270614.1:n.83-17_83-16del | |
| XM_005270557.2:c.83-17_83-16del | XP_005270614.1:n.83-17_83-16del | |
| NM_000642.3:c.83-17_83-16del MANE Select | NP_000633.2:n.83-17_83-16del |