HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23431668_23431669insTG , CM000676.2:g.23431668_23431669insTG | GRCh38 |
NC_000014.8:g.23900877_23900878insTG , CM000676.1:g.23900877_23900878insTG | GRCh37 |
NC_000014.7:g.22970717_22970718insTG | NCBI36 |
NG_007884.1:g.8993_8994insCA , LRG_384:g.8993_8994insCA |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.648_649insCA MANE Select | ENSP00000347507.3:p.Glu217GlnfsTer? | |
ENST00000355349.3:c.648_649insCA | ENSP00000347507.3:p.Glu217GlnfsTer? | |
NM_000257.3:c.648_649insCA | NP_000248.2:p.Glu217GlnfsTer? | |
XR_245686.3:n.754_755insCA | ||
XM_017021340.1:c.648_649insCA | XP_016876829.1:p.Glu217GlnfsTer? | |
NM_000257.4:c.648_649insCA MANE Select | NP_000248.2:p.Glu217GlnfsTer? |