Linked Data
dbSNP Id:
rs748577817
gnomAD v2:
10-96540458-CT-C
gnomAD v3:
10-94780701-CT-C
gnomAD v4:
10-94780701-CT-C
COSMIC:
COSN20065364
MyVariant Identifiers:
chr10:g.96540459del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780708del , CM000672.2:g.94780708del | GRCh38 |
| NC_000010.10:g.96540465del , CM000672.1:g.96540465del | GRCh37 |
| NC_000010.9:g.96530455del | NCBI36 |
| NG_008384.2:g.23003del | |
| NG_008384.3:g.23028del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.642+49del MANE Select | ENSP00000360372.3:n.642+49del | |
| ENST00000645461.1:n.1695+49del | ||
| ENST00000371321.7:c.642+49del | ENSP00000360372.3:n.642+49del | |
| ENST00000464755.1:c.1405+49del | ENSP00000483243.1:n.1405+49del | |
| NM_000769.2:c.642+49del | NP_000760.1:n.642+49del | |
| NM_000769.4:c.642+49del MANE Select | NP_000760.1:n.642+49del |