Linked Data
ClinVar Variation Id:
37691
ClinVar RCV Id:
RCV000031272
RCV000049087
RCV000163427
RCV000240681
RCV000478017
RCV000778174
RCV000785198
RCV001554246
dbSNP Id:
rs80357783
gnomAD v4:
17-43124030-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43124031dup , CM000679.2:g.43124031dup | GRCh38 |
| NC_000017.10:g.41276048dup , CM000679.1:g.41276048dup | GRCh37 |
| NC_000017.9:g.38529574dup | NCBI36 |
| NG_005905.2:g.93953dup , LRG_292:g.93953dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354071.8:n.130dup | ||
| ENST00000461574.2:c.66dup | ENSP00000417241.2:p.Glu23ArgfsTer18 | |
| ENST00000470026.6:c.66dup | ENSP00000419274.2:p.Glu23ArgfsTer18 | |
| ENST00000473961.6:c.66dup | ENSP00000420201.2:p.Glu23ArgfsTer18 | |
| ENST00000476777.6:c.66dup | ENSP00000417554.2:p.Glu23ArgfsTer18 | |
| ENST00000477152.6:c.66dup | ENSP00000419988.2:p.Glu23ArgfsTer18 | |
| ENST00000478531.6:c.66dup | ENSP00000420412.2:p.Glu23ArgfsTer18 | |
| ENST00000489037.2:c.66dup | ENSP00000420781.2:p.Glu23ArgfsTer18 | |
| ENST00000493919.6:c.-22dup | ENSP00000418819.2:n.-22dup | |
| ENST00000494123.6:c.66dup | ENSP00000419103.2:p.Glu23ArgfsTer18 | |
| ENST00000497488.2:c.-219+1240dup | ENSP00000418986.2:n.-219+1240dup | |
| ENST00000618469.2:c.66dup | ENSP00000478114.2:p.Glu23ArgfsTer18 | |
| ENST00000634433.2:c.66dup | ENSP00000489431.2:p.Glu23ArgfsTer18 | |
| ENST00000644379.2:c.66dup | ENSP00000496570.2:p.Glu23ArgfsTer18 | |
| ENST00000644555.2:c.-221dup | ENSP00000494614.2:n.-221dup | |
| ENST00000652672.2:c.-195dup | ENSP00000498906.2:n.-195dup | |
| ENST00000484087.6:c.66dup | ENSP00000419481.2:p.Glu23ArgfsTer18 | |
| ENST00000700182.1:c.66dup | ENSP00000514849.1:p.Glu23ArgfsTer18 | |
| ENST00000700183.1:c.66dup | ENSP00000514850.1:p.Glu23ArgfsTer18 | |
| ENST00000700184.1:n.309dup | ||
| ENST00000700185.1:n.185dup | ||
| ENST00000700186.1:n.185dup | ||
| ENST00000357654.9:c.66dup MANE Select | ENSP00000350283.3:p.Glu23ArgfsTer18 | |
| ENST00000471181.7:c.66dup | ENSP00000418960.2:p.Glu23ArgfsTer18 | |
| ENST00000642945.1:c.66dup | ENSP00000495897.1:p.Glu23ArgfsTer18 | |
| ENST00000644555.1:c.-221dup | ENSP00000494614.1:n.-221dup | |
| ENST00000652672.1:c.-195dup | ENSP00000498906.1:n.-195dup | |
| ENST00000352993.7:c.66dup | ENSP00000312236.5:p.Glu23ArgfsTer18 | |
| ENST00000354071.7:c.66dup | ENSP00000326002.7:p.Glu23ArgfsTer18 | |
| ENST00000357654.7:c.66dup | ENSP00000350283.3:p.Glu23ArgfsTer18 | |
| ENST00000461221.5:c.66dup | ENSP00000418548.1:p.Glu23ArgfsTer18 | |
| ENST00000461798.5:c.66dup | ENSP00000417988.1:p.Glu23ArgfsTer18 | |
| ENST00000468300.5:c.66dup | ENSP00000417148.1:p.Glu23ArgfsTer18 | |
| ENST00000470026.5:c.66dup | ENSP00000419274.1:p.Glu23ArgfsTer18 | |
| ENST00000471181.6:c.66dup | ENSP00000418960.2:p.Glu23ArgfsTer18 | |
| ENST00000476777.5:c.66dup | ENSP00000417554.1:p.Glu23ArgfsTer18 | |
| ENST00000477152.5:c.66dup | ENSP00000419988.1:p.Glu23ArgfsTer18 | |
| ENST00000478531.5:c.66dup | ENSP00000420412.1:p.Glu23ArgfsTer18 | |
| ENST00000489037.1:c.66dup | ENSP00000420781.1:p.Glu23ArgfsTer18 | |
| ENST00000491747.6:c.66dup | ENSP00000420705.2:p.Glu23ArgfsTer18 | |
| ENST00000492859.5:c.66dup | ENSP00000420253.1:p.Glu23ArgfsTer18 | |
| ENST00000493795.5:c.-22dup | ENSP00000418775.1:n.-22dup | |
| ENST00000493919.5:c.-22dup | ENSP00000418819.1:n.-22dup | |
| ENST00000494123.5:c.66dup | ENSP00000419103.1:p.Glu23ArgfsTer18 | |
| ENST00000497488.1:c.-219+1240dup | ENSP00000418986.1:n.-219+1240dup | |
| ENST00000586385.5:c.4+1151dup | ENSP00000465818.1:n.4+1151dup | |
| ENST00000591534.5:c.-44+1240dup | ENSP00000467329.1:n.-44+1240dup | |
| ENST00000591849.5:c.-99+1240dup | ENSP00000465347.1:n.-99+1240dup | |
| ENST00000618469.1:c.66dup | ENSP00000478114.1:p.Glu23ArgfsTer? | |
| ENST00000634433.1:c.66dup | ENSP00000489431.1:p.Glu23ArgfsTer18 | |
| NM_007294.3:c.66dup , LRG_292t1:c.66dup | NP_009225.1:p.Glu23ArgfsTer18 | |
| NM_007297.3:c.-22dup | NP_009228.2:n.-22dup | |
| NM_007298.3:c.66dup | NP_009229.2:p.Glu23ArgfsTer18 | |
| NM_007299.3:c.66dup | NP_009230.2:p.Glu23ArgfsTer18 | |
| NM_007300.3:c.66dup | NP_009231.2:p.Glu23ArgfsTer18 | |
| NR_027676.1:n.227dup | ||
| NM_007294.4:c.66dup MANE Select | NP_009225.1:p.Glu23ArgfsTer18 | |
| NM_007297.4:c.-22dup | NP_009228.2:n.-22dup | |
| NM_007299.4:c.66dup | NP_009230.2:p.Glu23ArgfsTer18 | |
| NM_007300.4:c.66dup | NP_009231.2:p.Glu23ArgfsTer18 | |
| NR_027676.2:n.268dup |