Linked Data
dbSNP Id:
rs377639087
ExAC:
5:1293675 GTCC / G
gnomAD v2:
5-1293675-GTCC-G
gnomAD v3:
5-1293560-GTCC-G
gnomAD v4:
5-1293560-GTCC-G
MyVariant Identifiers:
chr5:g.1293676_1293678del (hg19)
chr5:g.1293562_1293564del (hg38)
chr5:g.1293561_1293563del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293569_1293571del , CM000667.2:g.1293569_1293571del | GRCh38 |
| NC_000005.9:g.1293684_1293686del , CM000667.1:g.1293684_1293686del | GRCh37 |
| NC_000005.8:g.1346684_1346686del | NCBI36 |
| NG_009265.1:g.6485_6487del , LRG_343:g.6485_6487del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.1323_1325del MANE Select | ENSP00000309572.5:p.Glu441del | |
| ENST00000656021.1:c.1323_1325del | ENSP00000499759.1:p.Glu441del | |
| ENST00000310581.9:c.1323_1325del | ENSP00000309572.5:p.Glu441del | |
| ENST00000334602.10:c.1323_1325del | ENSP00000334346.6:p.Glu441del | |
| ENST00000460137.6:c.1323_1325del | ENSP00000425003.1:p.Glu441del | |
| ENST00000508104.2:c.1323_1325del | ENSP00000426042.2:p.Glu441del | |
| NM_001193376.1:c.1323_1325del | NP_001180305.1:p.Glu441del | |
| NM_198253.2:c.1323_1325del , LRG_343t1:c.1323_1325del | NP_937983.2:p.Glu441del | |
| NR_149162.1:n.1381_1383del | ||
| NR_149163.1:n.1381_1383del | ||
| NM_001193376.2:c.1323_1325del | NP_001180305.1:p.Glu441del | |
| NM_198253.3:c.1323_1325del MANE Select | NP_937983.2:p.Glu441del | |
| NR_149162.2:n.1402_1404del | ||
| NR_149163.2:n.1402_1404del | ||
| NM_001193376.3:c.1323_1325del | NP_001180305.1:p.Glu441del | |
| NR_149162.3:n.1402_1404del | ||
| NR_149163.3:n.1402_1404del |