Linked Data
ClinVar Variation Id:
550277
ClinVar RCV Id:
RCV000664981
dbSNP Id:
rs1555601802
gnomAD v4:
17-80113333-C-CG
MyVariant Identifiers:
chr17:g.80113338dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80113338dup , CM000679.2:g.80113338dup | GRCh38 |
| NC_000017.10:g.78087137dup , CM000679.1:g.78087137dup | GRCh37 |
| NC_000017.9:g.75701732dup | NCBI36 |
| NG_009822.1:g.16783dup , LRG_673:g.16783dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2161dup | ENSP00000460543.2:p.Glu721GlyfsTer16 | |
| ENST00000572080.2:c.*299dup | ENSP00000459972.2:n.*299dup | |
| ENST00000577106.6:c.2161dup | ENSP00000458306.2:p.Glu721GlyfsTer16 | |
| ENST00000302262.8:c.2161dup MANE Select | ENSP00000305692.3:p.Glu721GlyfsTer16 | |
| ENST00000302262.7:c.2161dup | ENSP00000305692.3:p.Glu721GlyfsTer16 | |
| ENST00000390015.7:c.2161dup | ENSP00000374665.3:p.Glu721GlyfsTer16 | |
| ENST00000572080.1:c.580dup | ||
| NM_000152.3:c.2161dup , LRG_673t1:c.2161dup | NP_000143.2:p.Glu721GlyfsTer16 | |
| NM_001079803.1:c.2161dup | NP_001073271.1:p.Glu721GlyfsTer16 | |
| NM_001079804.1:c.2161dup | NP_001073272.1:p.Glu721GlyfsTer16 | |
| XM_005257193.1:c.2161dup | XP_005257250.1:p.Glu721GlyfsTer16 | |
| XM_005257194.3:c.2161dup | XP_005257251.1:p.Glu721GlyfsTer16 | |
| NM_000152.4:c.2161dup | NP_000143.2:p.Glu721GlyfsTer16 | |
| NM_001079803.2:c.2161dup | NP_001073271.1:p.Glu721GlyfsTer16 | |
| NM_001079804.2:c.2161dup | NP_001073272.1:p.Glu721GlyfsTer16 | |
| XM_005257193.2:c.2161dup | XP_005257250.1:p.Glu721GlyfsTer16 | |
| XM_005257194.4:c.2161dup | XP_005257251.1:p.Glu721GlyfsTer16 | |
| NM_000152.5:c.2161dup MANE Select | NP_000143.2:p.Glu721GlyfsTer16 | |
| NM_001079803.3:c.2161dup | NP_001073271.1:p.Glu721GlyfsTer16 | |
| NM_001079804.3:c.2161dup | NP_001073272.1:p.Glu721GlyfsTer16 |