HGVS | Genome Assembly |
---|---|
NC_000016.10:g.46698132_46698182dup , CM000678.2:g.46698132_46698182dup | GRCh38 |
NC_000016.9:g.46732044_46732094dup , CM000678.1:g.46732044_46732094dup | GRCh37 |
NC_000016.8:g.45289545_45289595dup | NCBI36 |
NG_028241.1:g.13487_13537dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219097.7:c.*547_*597dup MANE Select | ENSP00000219097.2:n.*547_*597dup | |
ENST00000219097.6:c.*547_*597dup | ENSP00000219097.2:n.*547_*597dup | |
ENST00000566860.1:c.*547_*597dup | ENSP00000456981.1:n.*547_*597dup | |
ENST00000567000.2:n.1310_1360dup | ||
NM_014321.3:c.*547_*597dup | NP_055136.1:n.*547_*597dup | |
NR_037620.1:n.1425_1475dup | ||
NM_014321.4:c.*547_*597dup MANE Select | NP_055136.1:n.*547_*597dup | |
NR_037620.2:n.1412_1462dup |