Linked Data
gnomAD v4:
6-34762668-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.34762670dup , CM000668.2:g.34762670dup | GRCh38 |
| NC_000006.11:g.34730447dup , CM000668.1:g.34730447dup | GRCh37 |
| NC_000006.10:g.34838425dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244520.10:c.127dup MANE Select | ENSP00000244520.5:p.Glu43GlyfsTer9 | |
| ENST00000244520.9:c.127dup | ENSP00000244520.5:p.Glu43GlyfsTer9 | |
| ENST00000374017.3:c.190dup | ENSP00000363129.3:p.Glu64GlyfsTer9 | |
| ENST00000374018.5:c.4dup | ENSP00000363130.1:p.Glu2GlyfsTer9 | |
| ENST00000474635.1:n.119dup | ||
| NM_003093.2:c.127dup | NP_003084.1:p.Glu43GlyfsTer9 | |
| NR_029472.1:n.534dup | ||
| NM_003093.3:c.127dup MANE Select | NP_003084.1:p.Glu43GlyfsTer9 | |
| NR_029472.2:n.123dup |