Linked Data
ClinVar Variation Id:
102814
dbSNP Id:
rs199475666
ExAC:
12:103246697 AG / A
gnomAD v2:
12-103246697-AG-A
gnomAD v4:
12-102852919-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852920del , CM000674.2:g.102852920del | GRCh38 |
| NC_000012.11:g.103246698del , CM000674.1:g.103246698del | GRCh37 |
| NC_000012.10:g.101770828del | NCBI36 |
| NG_008690.1:g.69683del | |
| NG_008690.2:g.110491del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.737del MANE Select | ENSP00000448059.1:p.Ala246ValfsTer? | |
| ENST00000307000.7:c.722del | ENSP00000303500.2:p.Ala241ValfsTer? | |
| ENST00000549247.6:n.496del | ||
| ENST00000553106.5:c.737del | ENSP00000448059.1:p.Ala246ValfsTer? | |
| NM_000277.1:c.737del | NP_000268.1:p.Ala246ValfsTer? | |
| XM_011538422.1:c.737del | XP_011536724.1:p.Ala246ValfsTer? | |
| NM_000277.2:c.737del | NP_000268.1:p.Ala246ValfsTer? | |
| NM_001354304.1:c.737del | NP_001341233.1:p.Ala246ValfsTer? | |
| NM_000277.3:c.737del MANE Select | NP_000268.1:p.Ala246ValfsTer? | |
| NM_001354304.2:c.737del | NP_001341233.1:p.Ala246ValfsTer? |