HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767510_28767515dup , CM000676.2:g.28767510_28767515dup | GRCh38 |
NC_000014.8:g.29236716_29236721dup , CM000676.1:g.29236716_29236721dup | GRCh37 |
NC_000014.7:g.28306467_28306472dup | NCBI36 |
NG_009367.1:g.5430_5435dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.231_236dup | ENSP00000516406.1:p.Pro79_Pro80insProPro | |
ENST00000313071.7:c.231_236dup MANE Select | ENSP00000339004.3:p.Pro79_Pro80insProPro | |
ENST00000313071.6:c.231_236dup | ENSP00000339004.3:p.Pro79_Pro80insProPro | |
NM_005249.4:c.231_236dup | NP_005240.3:p.Pro79_Pro80insProPro | |
NM_005249.5:c.231_236dup MANE Select | NP_005240.3:p.Pro79_Pro80insProPro |