HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57750625_57750657del , CM000674.2:g.57750625_57750657del | GRCh38 |
NC_000012.11:g.58144408_58144440del , CM000674.1:g.58144408_58144440del | GRCh37 |
NC_000012.10:g.56430675_56430707del | NCBI36 |
NG_007484.2:g.6727_6759del , LRG_490:g.6727_6759del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000257904.11:c.632+1_632+33del | ||
ENST00000257904.10:c.632+1_632+33del | ||
ENST00000312990.10:c.280+1_280+33del | ||
ENST00000546489.5:c.410+1_410+33del | ||
ENST00000547281.5:c.410+1_410+33del | ||
ENST00000549606.5:c.-157-1151_-157-1119del | ENSP00000447005.1:n.-157-1151_-157-1119del | |
ENST00000550419.5:c.523-92_523-60del | ENSP00000448098.1:n.523-92_523-60del | |
ENST00000551888.5:n.458+1_458+33del | ||
ENST00000553237.5:c.*271+1_*271+33del | ||
NM_000075.3:c.632+1_632+33del | ||
NM_000075.4:c.632+1_632+33del |