HGVS | Genome Assembly |
---|---|
NC_000004.12:g.41746003_41746037del , CM000666.2:g.41746003_41746037del | GRCh38 |
NC_000004.11:g.41748020_41748054del , CM000666.1:g.41748020_41748054del | GRCh37 |
NC_000004.10:g.41442777_41442811del | NCBI36 |
NG_008243.1:g.7941_7975del , LRG_513:g.7941_7975del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226382.4:c.722_756del MANE Select | ENSP00000226382.2:p.Ala241GlyfsTer? | |
ENST00000226382.3:c.722_756del | ENSP00000226382.2:p.Ala241GlyfsTer? | |
NM_003924.3:c.722_756del , LRG_513t1:c.722_756del | NP_003915.2:p.Ala241GlyfsTer? | |
NM_003924.4:c.722_756del MANE Select | NP_003915.2:p.Ala241GlyfsTer? |