Linked Data
ClinVar Variation Id:
102888
dbSNP Id:
rs62642920
gnomAD v2:
12-103245469-GA-G
gnomAD v3:
12-102851691-GA-G
gnomAD v4:
12-102851691-GA-G
MyVariant Identifiers:
chr12:g.103245473del (hg19)
chr12:g.103245470del (hg19)
chr12:g.102851695del (hg38)
chr12:g.102851692del (hg38)
ERepo:
CA229840/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851695del , CM000674.2:g.102851695del | GRCh38 |
| NC_000012.11:g.103245473del , CM000674.1:g.103245473del | GRCh37 |
| NC_000012.10:g.101769603del | NCBI36 |
| NG_008690.1:g.70911del | |
| NG_008690.2:g.111719del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.907del MANE Select | ENSP00000448059.1:p.Ser303ProfsTer? | |
| ENST00000307000.7:c.892del | ENSP00000303500.2:p.Ser298ProfsTer? | |
| ENST00000549247.6:n.666del | ||
| ENST00000551114.2:n.569del | ||
| ENST00000553106.5:c.907del | ENSP00000448059.1:p.Ser303ProfsTer? | |
| ENST00000635477.1:c.68del | ||
| NM_000277.1:c.907del | NP_000268.1:p.Ser303ProfsTer? | |
| XM_011538422.1:c.907del | XP_011536724.1:p.Ser303ProfsTer19 | |
| NM_000277.2:c.907del | NP_000268.1:p.Ser303ProfsTer? | |
| NM_001354304.1:c.907del | NP_001341233.1:p.Ser303ProfsTer? | |
| NM_000277.3:c.907del MANE Select | NP_000268.1:p.Ser303ProfsTer? | |
| NM_001354304.2:c.907del | NP_001341233.1:p.Ser303ProfsTer? |