HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160139770_160139772del , CM000663.2:g.160139770_160139772del | GRCh38 |
NC_000001.10:g.160109560_160109562del , CM000663.1:g.160109560_160109562del | GRCh37 |
NC_000001.9:g.158376184_158376186del | NCBI36 |
NG_008014.1:g.29013_29015del , LRG_6:g.29013_29015del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.2942+29_2942+31del MANE Select | ENSP00000354490.3:n.2942+29_2942+31del | |
ENST00000361216.7:c.2942+29_2942+31del | ENSP00000354490.3:n.2942+29_2942+31del | |
ENST00000392233.7:c.2942+29_2942+31del | ENSP00000376066.3:n.2942+29_2942+31del | |
ENST00000447527.1:c.2023+29_2023+31del | ||
ENST00000463989.1:n.278+29_278+31del | ||
NM_000702.3:c.2942+29_2942+31del | NP_000693.1:n.2942+29_2942+31del | |
NM_000702.4:c.2942+29_2942+31del MANE Select | NP_000693.1:n.2942+29_2942+31del |