HGVS | Genome Assembly |
---|---|
NC_000005.10:g.136046121_136046125del , CM000667.2:g.136046121_136046125del | GRCh38 |
NC_000005.9:g.135381810_135381814del , CM000667.1:g.135381810_135381814del | GRCh37 |
NC_000005.8:g.135409709_135409713del | NCBI36 |
NG_012646.1:g.22227_22231del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000442011.7:c.299-214_299-210del MANE Select | ENSP00000416330.2:n.299-214_299-210del | |
ENST00000442011.6:c.299-214_299-210del | ENSP00000416330.2:n.299-214_299-210del | |
ENST00000504185.5:n.456-214_456-210del | ||
ENST00000506699.5:n.364-214_364-210del | ||
ENST00000507018.5:c.216-214_216-210del | ||
ENST00000515433.1:n.377_381del | ||
NM_000358.2:c.299-214_299-210del | NP_000349.1:n.299-214_299-210del | |
NM_000358.3:c.299-214_299-210del MANE Select | NP_000349.1:n.299-214_299-210del |