HGVS | Genome Assembly |
---|---|
NC_000003.12:g.186539475del , CM000665.2:g.186539475del | GRCh38 |
NC_000003.11:g.186257264del , CM000665.1:g.186257264del | GRCh37 |
NC_000003.10:g.187739958del | NCBI36 |
NG_009829.1:g.9904del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307944.6:c.144del MANE Select | ENSP00000312099.5:p.Val49PhefsTer? | |
ENST00000307944.5:c.144del | ENSP00000312099.5:p.Val49PhefsTer? | |
ENST00000392499.6:c.144del | ENSP00000376287.2:p.Val49PhefsTer? | |
ENST00000460288.1:n.1046del | ||
NM_017541.2:c.144del | NP_060011.1:p.Val49PhefsTer? | |
NM_017541.3:c.144del | NP_060011.1:p.Val49PhefsTer? | |
NM_017541.4:c.144del MANE Select | NP_060011.1:p.Val49PhefsTer? |