HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23433492_23433493insCCTG , CM000676.2:g.23433492_23433493insCCTG | GRCh38 |
NC_000014.8:g.23902701_23902702insCCTG , CM000676.1:g.23902701_23902702insCCTG | GRCh37 |
NC_000014.7:g.22972541_22972542insCCTG | NCBI36 |
NG_007884.1:g.7169_7170insCAGG , LRG_384:g.7169_7170insCAGG |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.201+39_201+40insCAGG MANE Select | ENSP00000347507.3:n.201+39_201+40insCAGG | |
ENST00000355349.3:c.201+39_201+40insCAGG | ENSP00000347507.3:n.201+39_201+40insCAGG | |
NM_000257.3:c.201+39_201+40insCAGG | NP_000248.2:n.201+39_201+40insCAGG | |
XR_245686.3:n.307+39_307+40insCAGG | ||
XM_017021340.1:c.201+39_201+40insCAGG | XP_016876829.1:n.201+39_201+40insCAGG | |
NM_000257.4:c.201+39_201+40insCAGG MANE Select | NP_000248.2:n.201+39_201+40insCAGG |