Linked Data
ClinVar Variation Id:
404456
ClinVar RCV Id:
RCV000463605
dbSNP Id:
rs1060500271
PubMed:
PMID:23913538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31233072del , CM000679.2:g.31233072del | GRCh38 |
| NC_000017.10:g.29560090del , CM000679.1:g.29560090del | GRCh37 |
| NC_000017.9:g.26584216del | NCBI36 |
| NG_009018.1:g.143096del , LRG_214:g.143096del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.3612del | ENSP00000512431.1:p.Gly1205AlafsTer25 | |
| ENST00000696139.1:c.912del | ENSP00000512432.1:p.Gly305AlafsTer25 | |
| ENST00000691014.1:c.3597del | ENSP00000510595.1:p.Gly1200AlafsTer25 | |
| ENST00000693210.1:n.293del | ||
| ENST00000358273.9:c.3567del MANE Select | ENSP00000351015.4:p.Gly1190AlafsTer25 | |
| ENST00000356175.7:c.3567del | ENSP00000348498.3:p.Gly1190AlafsTer25 | |
| ENST00000358273.8:c.3567del | ENSP00000351015.4:p.Gly1190AlafsTer25 | |
| ENST00000456735.6:c.2565del | ENSP00000389907.2:p.Gly856AlafsTer25 | |
| ENST00000466819.5:c.43del | ||
| ENST00000479614.1:c.43del | ||
| ENST00000493220.5:n.2103del | ||
| ENST00000495910.6:c.3342del | ||
| ENST00000579081.5:c.3669del | ENSP00000462408.1:p.Gly1224AlafsTer25 | |
| NM_000267.3:c.3567del , LRG_214t1:c.3567del | NP_000258.1:p.Gly1190AlafsTer25 | |
| NM_001042492.2:c.3567del , LRG_214t2:c.3567del | NP_001035957.1:p.Gly1190AlafsTer25 | |
| XM_005257983.1:c.3567del | XP_005258040.1:p.Gly1190AlafsTer25 | |
| XM_005257984.1:c.3567del | XP_005258041.1:p.Gly1190AlafsTer25 | |
| XM_006721922.1:c.3597del | XP_006721985.1:p.Gly1200AlafsTer25 | |
| XM_006721923.2:c.3558del | XP_006721986.1:p.Gly1187AlafsTer25 | |
| XM_006721924.1:c.3597del | XP_006721987.1:p.Gly1200AlafsTer25 | |
| XM_006721925.1:c.3597del | XP_006721988.1:p.Gly1200AlafsTer25 | |
| XM_006721926.2:c.3597del | XP_006721989.1:p.Gly1200AlafsTer25 | |
| XM_006721927.1:c.3597del | XP_006721990.1:p.Gly1200AlafsTer25 | |
| XM_006721928.2:c.3597del | XP_006721991.1:p.Gly1200AlafsTer25 | |
| XM_011524852.1:c.3594del | XP_011523154.1:p.Gly1199AlafsTer25 | |
| XM_011524853.1:c.3558del | XP_011523155.1:p.Gly1187AlafsTer25 | |
| XM_011524854.1:c.3558del | XP_011523156.1:p.Gly1187AlafsTer25 | |
| XM_011524855.1:c.3558del | XP_011523157.1:p.Gly1187AlafsTer25 | |
| XM_011524856.1:c.3558del | XP_011523158.1:p.Gly1187AlafsTer25 | |
| XM_011524857.1:c.3597del | XP_011523159.1:p.Gly1200AlafsTer25 | |
| NM_001042492.3:c.3567del MANE Select | NP_001035957.1:p.Gly1190AlafsTer25 |