Linked Data
ClinVar Variation Id:
102554
dbSNP Id:
rs199475590
gnomAD v2:
12-103237424-CT-C
gnomAD v3:
12-102843646-CT-C
gnomAD v4:
12-102843646-CT-C
ERepo:
CA229383/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843648del , CM000674.2:g.102843648del | GRCh38 |
| NC_000012.11:g.103237426del , CM000674.1:g.103237426del | GRCh37 |
| NC_000012.10:g.101761556del | NCBI36 |
| NG_008690.1:g.78956del | |
| NG_008690.2:g.119764del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1198del MANE Select | ENSP00000448059.1:p.Arg400GlyfsTer? | |
| ENST00000307000.7:c.1183del | ENSP00000303500.2:p.Arg395GlyfsTer? | |
| ENST00000549247.6:n.957del | ||
| ENST00000551114.2:n.860del | ||
| ENST00000553106.5:c.1198del | ENSP00000448059.1:p.Arg400GlyfsTer? | |
| ENST00000635477.1:c.302del | ||
| ENST00000635528.1:n.713del | ||
| NM_000277.1:c.1198del | NP_000268.1:p.Arg400GlyfsTer? | |
| XM_011538422.1:c.1141del | XP_011536724.1:p.Arg381GlyfsTer? | |
| NM_000277.2:c.1198del | NP_000268.1:p.Arg400GlyfsTer? | |
| NM_001354304.1:c.1198del | NP_001341233.1:p.Arg400GlyfsTer? | |
| NM_000277.3:c.1198del MANE Select | NP_000268.1:p.Arg400GlyfsTer? | |
| NM_001354304.2:c.1198del | NP_001341233.1:p.Arg400GlyfsTer? |