HGVS | Genome Assembly |
---|---|
NC_000008.11:g.37965925_37965926del , CM000670.2:g.37965925_37965926del | GRCh38 |
NC_000008.10:g.37823443_37823444del , CM000670.1:g.37823443_37823444del | GRCh37 |
NC_000008.9:g.37942600_37942601del | NCBI36 |
NG_011936.1:g.5741_5742del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345060.5:c.544_545del MANE Select | ENSP00000343782.3:p.Ala182ArgfsTer? | |
ENST00000520341.2:n.672_673del | ||
ENST00000647937.1:c.28_29del | ENSP00000497740.1:p.Ala10ArgfsTer? | |
ENST00000345060.4:c.544_545del | ENSP00000343782.3:p.Ala182ArgfsTer? | |
ENST00000614635.1:c.544_545del | ENSP00000480325.1:p.Ala182ArgfsTer? | |
NM_000025.2:c.544_545del | NP_000016.1:p.Ala182ArgfsTer? | |
NM_000025.3:c.544_545del MANE Select | NP_000016.1:p.Ala182ArgfsTer? |