HGVS | Genome Assembly |
---|---|
NC_000022.11:g.19724454_19724475dup , CM000684.2:g.19724454_19724475dup | GRCh38 |
NC_000022.10:g.19711977_19711998dup , CM000684.1:g.19711977_19711998dup | GRCh37 |
NC_000022.9:g.18091977_18091998dup | NCBI36 |
NG_007974.1:g.5912_5933dup , LRG_478:g.5912_5933dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000366425.4:c.611_*11dup (GP1BB) MANE Select | ENSP00000383382.2:n.611_*11dup | |
ENST00000366425.3:c.611_*11dup (GP1BB) | ENSP00000383382.2:n.611_*11dup | |
ENST00000431044.5:c.*1696_*1717dup (SEPTIN5) | ENSP00000399685.1:n.*1696_*1717dup | |
NM_000407.4:c.611_*11dup , LRG_478t1:c.611_*11dup (GP1BB) | NP_000398.1:n.611_*11dup | |
NR_037611.1:n.4351_4372dup | ||
NR_037612.1:n.2855_2876dup | ||
NM_000407.5:c.611_*11dup (GP1BB) MANE Select | NP_000398.1:n.611_*11dup |