HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189003096_189003099del , CM000664.2:g.189003096_189003099del | GRCh38 |
NC_000002.11:g.189867822_189867825del , CM000664.1:g.189867822_189867825del | GRCh37 |
NC_000002.10:g.189576067_189576070del | NCBI36 |
NG_007404.1:g.33724_33727del , LRG_3:g.33724_33727del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000450867.2:c.2454+34_2454+37del | ENSP00000415346.2:n.2454+34_2454+37del | |
ENST00000304636.9:c.2553+34_2553+37del MANE Select | ENSP00000304408.4:n.2553+34_2553+37del | |
ENST00000304636.7:c.2553+34_2553+37del | ENSP00000304408.3:n.2553+34_2553+37del | |
ENST00000317840.9:c.2527+60_2527+63del | ENSP00000315243.6:n.2527+60_2527+63del | |
NM_000090.3:c.2553+34_2553+37del , LRG_3t1:c.2553+34_2553+37del | NP_000081.1:n.2553+34_2553+37del | |
NM_000090.4:c.2553+34_2553+37del MANE Select | NP_000081.2:n.2553+34_2553+37del |