HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129814295_129814339del , CM000671.2:g.129814295_129814339del | GRCh38 |
NC_000009.11:g.132576574_132576618del , CM000671.1:g.132576574_132576618del | GRCh37 |
NC_000009.10:g.131616395_131616439del | NCBI36 |
NG_008049.1:g.14835_14879del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.749-106_749-62del MANE Select | ENSP00000345719.4:n.749-106_749-62del | |
ENST00000651202.1:c.*17-106_*17-62del | ENSP00000498222.1:n.*17-106_*17-62del | |
ENST00000351698.4:c.749-106_749-62del | ENSP00000345719.4:n.749-106_749-62del | |
ENST00000474192.1:n.333-106_333-62del | ||
NM_000113.2:c.749-106_749-62del | NP_000104.1:n.749-106_749-62del | |
XR_929731.1:n.1076-106_1076-62del | ||
XR_929731.3:n.944-106_944-62del | ||
NM_000113.3:c.749-106_749-62del MANE Select | NP_000104.1:n.749-106_749-62del |