HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869219dup , CM000664.2:g.240869219dup | GRCh38 |
NC_000002.11:g.241808636dup , CM000664.1:g.241808636dup | GRCh37 |
NC_000002.10:g.241457309dup | NCBI36 |
NG_008005.1:g.5475dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.215dup MANE Select | ENSP00000302620.3:p.Asn72LysfsTer? | |
ENST00000307503.3:c.215dup | ENSP00000302620.3:p.Asn72LysfsTer? | |
ENST00000472436.1:n.235dup | ||
NM_000030.2:c.215dup | NP_000021.1:p.Asn72LysfsTer? | |
XR_924060.1:n.405+1015dup | ||
NM_000030.3:c.215dup MANE Select | NP_000021.1:p.Asn72LysfsTer? |