Linked Data
dbSNP Id:
rs747577061
ExAC:
11:101344488 G / GT
gnomAD v4:
11-101473757-G-GT
MyVariant Identifiers:
chr11:g.101344488_101344489insT (hg19)
chr11:g.101473757_101473758insT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101473758dup , CM000673.2:g.101473758dup | GRCh38 |
| NC_000011.9:g.101344489dup , CM000673.1:g.101344489dup | GRCh37 |
| NC_000011.8:g.100849699dup | NCBI36 |
| NG_011476.1:g.115171dup | |
| NG_011476.2:g.115171dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.1760dup MANE Select | ENSP00000340913.3:p.Asp587GlufsTer4 | |
| ENST00000344327.7:c.1760dup | ENSP00000340913.3:p.Asp587GlufsTer4 | |
| ENST00000348423.8:c.1412dup | ENSP00000343672.4:p.Asp471GlufsTer4 | |
| ENST00000360497.4:c.1595dup | ENSP00000353687.4:p.Asp532GlufsTer4 | |
| ENST00000532133.5:c.1526dup | ENSP00000435574.1:p.Asp509GlufsTer4 | |
| NM_004621.5:c.1760dup | NP_004612.2:p.Asp587GlufsTer4 | |
| XM_006718898.2:c.1760dup | XP_006718961.1:p.Asp587GlufsTer4 | |
| XM_011542968.1:c.1595dup | XP_011541270.1:p.Asp532GlufsTer4 | |
| XM_011542969.1:c.1760dup | XP_011541271.1:p.Asp587GlufsTer4 | |
| XM_011542968.3:c.1595dup | XP_011541270.1:p.Asp532GlufsTer4 | |
| XM_017018221.2:c.1412dup | XP_016873710.1:p.Asp471GlufsTer4 | |
| XR_001747948.2:n.2116dup | ||
| NM_004621.6:c.1760dup MANE Select | NP_004612.2:p.Asp587GlufsTer4 |