Linked Data
dbSNP Id:
rs1161514416
gnomAD v2:
16-2287536-A-AGCAGCACAGAACCTGGTGCTGATCCC
gnomAD v3:
16-2237535-A-AGCAGCACAGAACCTGGTGCTGATCCC
gnomAD v4:
16-2237535-A-AGCAGCACAGAACCTGGTGCTGATCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2237538_2237563dup , CM000678.2:g.2237538_2237563dup | GRCh38 |
| NC_000016.9:g.2287539_2287564dup , CM000678.1:g.2287539_2287564dup | GRCh37 |
| NC_000016.8:g.2227540_2227565dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320700.10:c.480_505dup MANE Select | ENSP00000316938.5:p.Leu169GlnfsTer7 | |
| ENST00000320700.9:c.480_505dup | ENSP00000316938.5:p.Leu169GlnfsTer7 | |
| ENST00000382437.8:c.419-2_442dup | ||
| ENST00000564065.5:c.480_505dup | ENSP00000454562.1:p.Leu169GlnfsTer7 | |
| ENST00000567494.5:c.480_505dup | ENSP00000455358.1:p.Leu169GlnfsTer7 | |
| ENST00000569184.1:c.471_496dup | ENSP00000455478.1:p.Leu166GlnfsTer7 | |
| ENST00000613572.4:c.419-2_442dup | ||
| NM_001301680.1:c.480_505dup | NP_001288609.1:p.Leu169GlnfsTer7 | |
| NM_001374.2:c.480_505dup | NP_001365.1:p.Leu169GlnfsTer7 | |
| XM_011522399.1:c.753_778dup | XP_011520701.1:p.Leu260GlnfsTer7 | |
| XM_011522399.2:c.753_778dup | XP_011520701.1:p.Leu260GlnfsTer7 | |
| NM_001374.3:c.480_505dup MANE Select | NP_001365.1:p.Leu169GlnfsTer7 | |
| NM_001301680.2:c.480_505dup | NP_001288609.1:p.Leu169GlnfsTer7 |