Linked Data
ClinVar Variation Id:
54960
dbSNP Id:
rs80357797
gnomAD v4:
17-43091859-G-GGGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091861_43091864dup , CM000679.2:g.43091861_43091864dup | GRCh38 |
| NC_000017.10:g.41243878_41243881dup , CM000679.1:g.41243878_41243881dup | GRCh37 |
| NC_000017.9:g.38497404_38497407dup | NCBI36 |
| NG_005905.2:g.126121_126124dup , LRG_292:g.126121_126124dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.3732_3735dup | ||
| ENST00000461574.2:c.3668_3671dup | ENSP00000417241.2:p.Cys1225SerfsTer10 | |
| ENST00000470026.6:c.3668_3671dup | ENSP00000419274.2:p.Cys1225SerfsTer10 | |
| ENST00000473961.6:c.3542_3545dup | ENSP00000420201.2:p.Cys1183SerfsTer10 | |
| ENST00000476777.6:c.3665_3668dup | ENSP00000417554.2:p.Cys1224SerfsTer10 | |
| ENST00000477152.6:c.3590_3593dup | ENSP00000419988.2:p.Cys1199SerfsTer10 | |
| ENST00000478531.6:c.785-831_785-828dup | ENSP00000420412.2:n.785-831_785-828dup | |
| ENST00000489037.2:c.3590_3593dup | ENSP00000420781.2:p.Cys1199SerfsTer10 | |
| ENST00000493919.6:c.647-831_647-828dup | ENSP00000418819.2:n.647-831_647-828dup | |
| ENST00000494123.6:c.3668_3671dup | ENSP00000419103.2:p.Cys1225SerfsTer10 | |
| ENST00000497488.2:c.2780_2783dup | ENSP00000418986.2:p.Cys929SerfsTer10 | |
| ENST00000618469.2:c.3668_3671dup | ENSP00000478114.2:p.Cys1225SerfsTer10 | |
| ENST00000634433.2:c.3545_3548dup | ENSP00000489431.2:p.Cys1184SerfsTer10 | |
| ENST00000644379.2:c.3668_3671dup | ENSP00000496570.2:p.Cys1225SerfsTer10 | |
| ENST00000644555.2:c.647-831_647-828dup | ENSP00000494614.2:n.647-831_647-828dup | |
| ENST00000652672.2:c.3527_3530dup | ENSP00000498906.2:p.Cys1178SerfsTer10 | |
| ENST00000484087.6:c.665-831_665-828dup | ENSP00000419481.2:n.665-831_665-828dup | |
| ENST00000700182.1:c.707-831_707-828dup | ENSP00000514849.1:n.707-831_707-828dup | |
| ENST00000357654.9:c.3668_3671dup MANE Select | ENSP00000350283.3:p.Cys1225SerfsTer10 | |
| ENST00000471181.7:c.3668_3671dup | ENSP00000418960.2:p.Cys1225SerfsTer10 | |
| ENST00000352993.7:c.671-831_671-828dup | ENSP00000312236.5:n.671-831_671-828dup | |
| ENST00000354071.7:c.3668_3671dup | ENSP00000326002.7:p.Cys1225SerfsTer10 | |
| ENST00000357654.7:c.3668_3671dup | ENSP00000350283.3:p.Cys1225SerfsTer10 | |
| ENST00000461221.5:c.*3451_*3454dup | ENSP00000418548.1:n.*3451_*3454dup | |
| ENST00000468300.5:c.788-831_788-828dup | ENSP00000417148.1:n.788-831_788-828dup | |
| ENST00000471181.6:c.3668_3671dup | ENSP00000418960.2:p.Cys1225SerfsTer10 | |
| ENST00000478531.5:c.785-831_785-828dup | ENSP00000420412.1:n.785-831_785-828dup | |
| ENST00000484087.5:c.410-831_410-828dup | ENSP00000419481.1:n.410-831_410-828dup | |
| ENST00000487825.5:c.413-831_413-828dup | ENSP00000418212.1:n.413-831_413-828dup | |
| ENST00000491747.6:c.788-831_788-828dup | ENSP00000420705.2:n.788-831_788-828dup | |
| ENST00000493795.5:c.3527_3530dup | ENSP00000418775.1:p.Cys1178SerfsTer10 | |
| ENST00000493919.5:c.647-831_647-828dup | ENSP00000418819.1:n.647-831_647-828dup | |
| ENST00000586385.5:c.5-27912_5-27909dup | ENSP00000465818.1:n.5-27912_5-27909dup | |
| ENST00000591534.5:c.-43-17342_-43-17339dup | ENSP00000467329.1:n.-43-17342_-43-17339du... | |
| ENST00000591849.5:c.-99+33408_-99+33411dup | ENSP00000465347.1:n.-99+33408_-99+33411du... | |
| NM_007294.3:c.3668_3671dup , LRG_292t1:c.3668_3671dup | NP_009225.1:p.Cys1225SerfsTer10 | |
| NM_007297.3:c.3527_3530dup | NP_009228.2:p.Cys1178SerfsTer10 | |
| NM_007298.3:c.788-831_788-828dup | NP_009229.2:n.788-831_788-828dup | |
| NM_007299.3:c.788-831_788-828dup | NP_009230.2:n.788-831_788-828dup | |
| NM_007300.3:c.3668_3671dup | NP_009231.2:p.Cys1225SerfsTer10 | |
| NR_027676.1:n.3804_3807dup | ||
| NM_007294.4:c.3668_3671dup MANE Select | NP_009225.1:p.Cys1225SerfsTer10 | |
| NM_007297.4:c.3527_3530dup | NP_009228.2:p.Cys1178SerfsTer10 | |
| NM_007299.4:c.788-831_788-828dup | NP_009230.2:n.788-831_788-828dup | |
| NM_007300.4:c.3668_3671dup | NP_009231.2:p.Cys1225SerfsTer10 | |
| NR_027676.2:n.3845_3848dup |