MyVariant.info:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255980_34255993dup , CM000679.2:g.34255980_34255993dup | GRCh38 |
| NC_000017.10:g.32582999_32583012dup , CM000679.1:g.32582999_32583012dup | GRCh37 |
| NC_000017.9:g.29607112_29607125dup | NCBI36 |
| NG_012123.1:g.5704_5717dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.77-242_77-229dup | ENSP00000462156.1:n.77-242_77-229dup | |
| ENST00000624362.2:n.696_709dup | ||
| ENST00000225831.4:c.77-242_77-229dup MANE Select | ENSP00000225831.4:n.77-242_77-229dup | |
| ENST00000580907.5:c.77-242_77-229dup | ENSP00000462156.1:n.77-242_77-229dup | |
| ENST00000624362.1:n.763_776dup | ||
| NM_002982.3:c.77-242_77-229dup | NP_002973.1:n.77-242_77-229dup | |
| NM_002982.4:c.77-242_77-229dup MANE Select | NP_002973.1:n.77-242_77-229dup |