HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23425526_23425528del , CM000676.2:g.23425526_23425528del | GRCh38 |
NC_000014.8:g.23894735_23894737del , CM000676.1:g.23894735_23894737del | GRCh37 |
NC_000014.7:g.22964575_22964577del | NCBI36 |
NG_007884.1:g.15139_15141del , LRG_384:g.15139_15141del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.2287-105_2287-103del MANE Select | ENSP00000347507.3:n.2287-105_2287-103del | |
ENST00000355349.3:c.2287-105_2287-103del | ENSP00000347507.3:n.2287-105_2287-103del | |
NM_000257.3:c.2287-105_2287-103del | NP_000248.2:n.2287-105_2287-103del | |
XR_245686.3:n.2393-105_2393-103del | ||
XM_017021340.1:c.2287-105_2287-103del | XP_016876829.1:n.2287-105_2287-103del | |
NM_000257.4:c.2287-105_2287-103del MANE Select | NP_000248.2:n.2287-105_2287-103del |