Linked Data
dbSNP Id:
rs1469578148
gnomAD v3:
12-7086279-GGA-G
gnomAD v4:
12-7086279-GGA-G
MyVariant Identifiers:
chr12:g.7086280_7086281del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7086280_7086281del , CM000674.2:g.7086280_7086281del | GRCh38 |
| NG_062465.1:g.11327_11328del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.1117+98_1117+99del MANE Select | ENSP00000497341.1:n.1117+98_1117+99del | |
| ENST00000648162.1:n.1089+98_1089+99del | ||
| ENST00000649804.1:c.211+98_211+99del | ENSP00000497938.1:n.211+98_211+99del | |
| ENST00000535233.6:c.1015+98_1015+99del | ENSP00000438636.3:n.1015+98_1015+99del | |
| ENST00000536053.6:c.1159+98_1159+99del | ENSP00000444271.3:n.1159+98_1159+99del | |
| ENST00000540394.5:n.2182+98_2182+99del | ||
| ENST00000542285.5:c.1117+98_1117+99del | ENSP00000438615.2:n.1117+98_1117+99del | |
| ENST00000602298.2:n.1466+98_1466+99del | ||
| NM_001733.4:c.1117+98_1117+99del | NP_001724.3:n.1117+98_1117+99del | |
| NM_001354346.1:c.1159+98_1159+99del | NP_001341275.1:n.1159+98_1159+99del | |
| NM_001733.6:c.1117+98_1117+99del | NP_001724.4:n.1117+98_1117+99del | |
| NM_001733.7:c.1117+98_1117+99del MANE Select | NP_001724.4:n.1117+98_1117+99del | |
| NM_001354346.2:c.1159+98_1159+99del | NP_001341275.1:n.1159+98_1159+99del |