Linked Data
dbSNP Id:
rs1295442743
gnomAD v2:
10-120810030-T-TG
gnomAD v4:
10-119050518-T-TG
MyVariant Identifiers:
chr10:g.120810030_120810031insG (hg19)
chr10:g.119050518_119050519insG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119050518_119050519insG , CM000672.2:g.119050518_119050519insG | GRCh38 |
| NC_000010.10:g.120810030_120810031insG , CM000672.1:g.120810030_120810031insG | GRCh37 |
| NC_000010.9:g.120800020_120800021insG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369144.8:c.2473+2_2473+3insC MANE Select | ENSP00000358140.3:n.2473+2_2473+3insC | |
| ENST00000369144.7:c.2473+2_2473+3insC | ENSP00000358140.3:n.2473+2_2473+3insC | |
| ENST00000541549.2:c.2473+2_2473+3insC | ENSP00000438178.2:n.2473+2_2473+3insC | |
| NM_003750.2:c.2473+2_2473+3insC | NP_003741.1:n.2473+2_2473+3insC | |
| NM_003750.3:c.2473+2_2473+3insC | NP_003741.1:n.2473+2_2473+3insC | |
| NM_003750.4:c.2473+2_2473+3insC MANE Select | NP_003741.1:n.2473+2_2473+3insC |