Linked Data
dbSNP Id:
rs61750414
ExAC:
7:92131227 CGA / C
gnomAD v2:
7-92131227-CGA-C
gnomAD v3:
7-92501913-CGA-C
gnomAD v4:
7-92501913-CGA-C
PubMed:
PMID:16088892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92501919_92501920del , CM000669.2:g.92501919_92501920del | GRCh38 |
| NC_000007.13:g.92131233_92131234del , CM000669.1:g.92131233_92131234del | GRCh37 |
| NC_000007.12:g.91969169_91969170del | NCBI36 |
| NG_008341.1:g.31617_31618del | |
| NG_008341.2:g.31617_31618del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.2391_2392del MANE Select | ENSP00000248633.4:p.Arg798SerfsTer? | |
| ENST00000248633.8:c.2391_2392del | ENSP00000248633.4:p.Arg798SerfsTer? | |
| ENST00000428214.5:c.2220_2221del | ENSP00000394413.1:p.Arg741SerfsTer? | |
| ENST00000438045.5:c.1425_1426del | ENSP00000410438.1:p.Arg476SerfsTer? | |
| ENST00000484913.5:n.2430_2431del | ||
| ENST00000496092.1:n.189_190del | ||
| ENST00000496420.5:n.2067_2068del | ||
| NM_000466.2:c.2391_2392del | NP_000457.1:p.Arg798SerfsTer? | |
| NM_001282677.1:c.2220_2221del | NP_001269606.1:p.Arg741SerfsTer? | |
| NM_001282678.1:c.1767_1768del | NP_001269607.1:p.Arg590SerfsTer? | |
| XM_005250433.3:c.642_643del | XP_005250490.1:p.Arg215SerfsTer? | |
| XR_242246.3:n.2487_2488del | ||
| XM_017012319.2:c.642_643del | XP_016867808.1:p.Arg215SerfsTer? | |
| XR_001744808.2:n.1418_1419del | ||
| XR_242246.5:n.2438_2439del | ||
| NM_000466.3:c.2391_2392del MANE Select | NP_000457.1:p.Arg798SerfsTer? | |
| NM_001282677.2:c.2220_2221del | NP_001269606.1:p.Arg741SerfsTer? | |
| NM_001282678.2:c.1767_1768del | NP_001269607.1:p.Arg590SerfsTer? |