Linked Data
ClinVar Variation Id:
56182
dbSNP Id:
rs386833634
ExAC:
1:40558134 A / AT
gnomAD v2:
1-40558134-A-AT
gnomAD v3:
1-40092462-A-AT
gnomAD v4:
1-40092462-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092469dup , CM000663.2:g.40092469dup | GRCh38 |
| NC_000001.10:g.40558141dup , CM000663.1:g.40558141dup | GRCh37 |
| NC_000001.9:g.40330728dup | NCBI36 |
| NG_009192.1:g.10008dup , LRG_690:g.10008dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372779.9:c.*5dup | ENSP00000361865.5:n.*5dup | |
| ENST00000433473.8:c.166dup | ENSP00000394863.4:p.Met56AsnfsTer? | |
| ENST00000439754.6:c.169dup | ENSP00000403207.2:p.Met57AsnfsTer? | |
| ENST00000449045.7:c.125-2951dup | ENSP00000392293.2:n.125-2951dup | |
| ENST00000526547.2:c.449dup | ||
| ENST00000527311.7:c.169dup | ENSP00000436695.3:p.Met57AsnfsTer? | |
| ENST00000530704.6:c.169dup | ENSP00000431655.1:p.Met57AsnfsTer? | |
| ENST00000641083.1:c.147dup | ||
| ENST00000641236.1:n.181dup | ||
| ENST00000641319.1:c.169dup | ENSP00000493128.1:p.Met57AsnfsTer? | |
| ENST00000641471.1:c.256dup | ENSP00000493146.1:p.Met86AsnfsTer? | |
| ENST00000641548.1:c.*21dup | ENSP00000492984.1:n.*21dup | |
| ENST00000641691.1:c.*21dup | ENSP00000492910.1:n.*21dup | |
| ENST00000641924.1:c.124+4652dup | ENSP00000493063.1:n.124+4652dup | |
| ENST00000642050.2:c.169dup MANE Select | ENSP00000493153.1:p.Met57AsnfsTer? | |
| ENST00000372779.8:c.256dup | ENSP00000361865.4:p.Met86AsnfsTer? | |
| ENST00000433473.7:c.169dup | ENSP00000394863.3:p.Met57AsnfsTer? | |
| ENST00000449045.6:c.125-2951dup | ENSP00000392293.2:n.125-2951dup | |
| ENST00000526547.1:c.19dup | ENSP00000436481.1:p.Met7AsnfsTer? | |
| ENST00000527311.6:c.125-406dup | ENSP00000436695.2:n.125-406dup | |
| ENST00000529905.5:c.169dup | ENSP00000432053.1:p.Met57AsnfsTer? | |
| ENST00000530704.5:c.169dup | ENSP00000431655.1:p.Met57AsnfsTer? | |
| NM_000310.3:c.169dup , LRG_690t1:c.169dup | NP_000301.1:p.Met57AsnfsTer? | |
| NM_001142604.1:c.125-2951dup | NP_001136076.1:n.125-2951dup | |
| XM_005271008.1:c.169dup | XP_005271065.1:p.Met57AsnfsTer? | |
| NM_001363695.1:c.169dup | NP_001350624.1:p.Met57AsnfsTer? | |
| NM_000310.4:c.169dup MANE Select | NP_000301.1:p.Met57AsnfsTer? | |
| NM_001142604.2:c.125-2951dup | NP_001136076.1:n.125-2951dup | |
| NM_001363695.2:c.169dup | NP_001350624.1:p.Met57AsnfsTer? |