HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48492426del , CM000677.2:g.48492426del | GRCh38 |
NC_000015.9:g.48784623del , CM000677.1:g.48784623del | GRCh37 |
NC_000015.8:g.46571915del | NCBI36 |
NG_008805.2:g.158365del , LRG_778:g.158365del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.2854+37del | ENSP00000453958.2:n.2854+37del | |
ENST00000674301.2:c.2854+37del | ENSP00000501333.2:n.2854+37del | |
ENST00000684448.1:n.1528+37del | ||
ENST00000316623.10:c.2854+37del MANE Select | ENSP00000325527.5:n.2854+37del | |
ENST00000316623.9:c.2854+37del | ENSP00000325527.5:n.2854+37del | |
ENST00000537463.6:c.637-17774del | ENSP00000440294.2:n.637-17774del | |
NM_000138.4:c.2854+37del , LRG_778t1:c.2854+37del | NP_000129.3:n.2854+37del | |
NM_000138.5:c.2854+37del MANE Select | NP_000129.3:n.2854+37del |