HGVS | Genome Assembly |
---|---|
NC_000005.10:g.149977897_149977903del , CM000667.2:g.149977897_149977903del | GRCh38 |
NC_000005.9:g.149357460_149357466del , CM000667.1:g.149357460_149357466del | GRCh37 |
NC_000005.8:g.149337653_149337659del | NCBI36 |
NG_007147.2:g.19015_19021del , LRG_684:g.19015_19021del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000690410.1:n.477_483del | ||
ENST00000286298.5:c.245_251del MANE Select | ENSP00000286298.4:p.Pro82GlnfsTer5 | |
ENST00000286298.4:c.245_251del | ENSP00000286298.4:p.Pro82GlnfsTer5 | |
NM_000112.3:c.245_251del , LRG_684t1:c.245_251del | NP_000103.2:p.Pro82GlnfsTer5 | |
XM_017009191.2:c.245_251del | XP_016864680.1:p.Pro82GlnfsTer5 | |
NM_000112.4:c.245_251del MANE Select | NP_000103.2:p.Pro82GlnfsTer5 |