Linked Data
ClinVar Variation Id:
17679
ClinVar RCV Id:
RCV000019249
dbSNP Id:
rs80359884
PubMed:
PMID:7894491
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43070931_43070949del , CM000679.2:g.43070931_43070949del | GRCh38 |
| NC_000017.10:g.41222948_41222966del , CM000679.1:g.41222948_41222966del | GRCh37 |
| NC_000017.9:g.38476474_38476492del | NCBI36 |
| NG_005905.2:g.147036_147054del , LRG_292:g.147036_147054del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4963_4981del | ENSP00000417241.2:p.Gly1655LeufsTer15 | |
| ENST00000470026.6:c.4966_4984del | ENSP00000419274.2:p.Gly1656LeufsTer15 | |
| ENST00000473961.6:c.4840_4858del | ENSP00000420201.2:p.Gly1614LeufsTer15 | |
| ENST00000476777.6:c.4960_4978del | ENSP00000417554.2:p.Gly1654LeufsTer15 | |
| ENST00000477152.6:c.4888_4906del | ENSP00000419988.2:p.Gly1630LeufsTer15 | |
| ENST00000478531.6:c.1654_1672del | ENSP00000420412.2:p.Gly552LeufsTer15 | |
| ENST00000489037.2:c.4888_4906del | ENSP00000420781.2:p.Gly1630LeufsTer15 | |
| ENST00000493919.6:c.1516_1534del | ENSP00000418819.2:p.Gly506LeufsTer15 | |
| ENST00000494123.6:c.4966_4984del | ENSP00000419103.2:p.Gly1656LeufsTer15 | |
| ENST00000497488.2:c.4078_4096del | ENSP00000418986.2:p.Gly1360LeufsTer15 | |
| ENST00000618469.2:c.4966_4984del | ENSP00000478114.2:p.Gly1656LeufsTer15 | |
| ENST00000634433.2:c.4843_4861del | ENSP00000489431.2:p.Gly1615LeufsTer15 | |
| ENST00000644379.2:c.5032_5050del | ENSP00000496570.2:p.Gly1678LeufsTer15 | |
| ENST00000644555.2:c.1516_1534del | ENSP00000494614.2:p.Gly506LeufsTer15 | |
| ENST00000652672.2:c.4825_4843del | ENSP00000498906.2:p.Gly1609LeufsTer15 | |
| ENST00000484087.6:c.1528_1546del | ENSP00000419481.2:p.Gly510LeufsTer15 | |
| ENST00000700182.1:c.1573_1591del | ENSP00000514849.1:p.Gly525LeufsTer2 | |
| ENST00000357654.9:c.4966_4984del MANE Select | ENSP00000350283.3:p.Gly1656LeufsTer15 | |
| ENST00000471181.7:c.5029_5047del | ENSP00000418960.2:p.Gly1677LeufsTer15 | |
| ENST00000644379.1:c.1353_1371del | ||
| ENST00000352993.7:c.1540_1558del | ENSP00000312236.5:p.Gly514LeufsTer15 | |
| ENST00000357654.7:c.4966_4984del | ENSP00000350283.3:p.Gly1656LeufsTer15 | |
| ENST00000461221.5:c.*4749_*4767del | ENSP00000418548.1:n.*4749_*4767del | |
| ENST00000468300.5:c.1654_1672del | ENSP00000417148.1:p.Gly552LeufsTer15 | |
| ENST00000471181.6:c.5029_5047del | ENSP00000418960.2:p.Gly1677LeufsTer15 | |
| ENST00000472490.1:n.119_137del | ||
| ENST00000478531.5:c.1654_1672del | ENSP00000420412.1:p.Gly552LeufsTer15 | |
| ENST00000484087.5:c.1279_1297del | ENSP00000419481.1:p.Gly427LeufsTer15 | |
| ENST00000491747.6:c.1654_1672del | ENSP00000420705.2:p.Gly552LeufsTer15 | |
| ENST00000493795.5:c.4825_4843del | ENSP00000418775.1:p.Gly1609LeufsTer15 | |
| ENST00000493919.5:c.1516_1534del | ENSP00000418819.1:p.Gly506LeufsTer15 | |
| ENST00000586385.5:c.5-6997_5-6979del | ENSP00000465818.1:n.5-6997_5-6979del | |
| ENST00000591534.5:c.439_457del | ENSP00000467329.1:p.Gly147LeufsTer15 | |
| ENST00000591849.5:c.-98-20758_-98-20740del | ENSP00000465347.1:n.-98-20758_-98-20740de... | |
| NM_007294.3:c.4966_4984del , LRG_292t1:c.4966_4984del | NP_009225.1:p.Gly1656LeufsTer15 | |
| NM_007297.3:c.4825_4843del | NP_009228.2:p.Gly1609LeufsTer15 | |
| NM_007298.3:c.1654_1672del | NP_009229.2:p.Gly552LeufsTer15 | |
| NM_007299.3:c.1654_1672del | NP_009230.2:p.Gly552LeufsTer15 | |
| NM_007300.3:c.5029_5047del | NP_009231.2:p.Gly1677LeufsTer15 | |
| NR_027676.1:n.5102_5120del | ||
| NM_007294.4:c.4966_4984del MANE Select | NP_009225.1:p.Gly1656LeufsTer15 | |
| NM_007297.4:c.4825_4843del | NP_009228.2:p.Gly1609LeufsTer15 | |
| NM_007299.4:c.1654_1672del | NP_009230.2:p.Gly552LeufsTer15 | |
| NM_007300.4:c.5029_5047del | NP_009231.2:p.Gly1677LeufsTer15 | |
| NR_027676.2:n.5143_5161del |