HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724231_19724317del , CM000684.2:g.19724231_19724317del | GRCh38 |
NC_000022.10:g.19711754_19711840del , CM000684.1:g.19711754_19711840del | GRCh37 |
NC_000022.9:g.18091754_18091840del | NCBI36 |
NG_007974.1:g.5689_5775del , LRG_478:g.5689_5775del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000366425.4:c.388_474del (GP1BB) MANE Select | ENSP00000383382.2:p.Pro130_Leu158del | |
ENST00000366425.3:c.388_474del (GP1BB) | ENSP00000383382.2:p.Pro130_Leu158del | |
ENST00000431044.5:c.*1473_*1559del (SEPTIN5) | ENSP00000399685.1:n.*1473_*1559del | |
NM_000407.4:c.388_474del , LRG_478t1:c.388_474del (GP1BB) | NP_000398.1:p.Pro130_Leu158del | |
NR_037611.1:n.4128_4214del | ||
NR_037612.1:n.2632_2718del | ||
NM_000407.5:c.388_474del (GP1BB) MANE Select | NP_000398.1:p.Pro130_Leu158del |