HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117807282_117807283del , CM000670.2:g.117807282_117807283del | GRCh38 |
NC_000008.10:g.118819521_118819522del , CM000670.1:g.118819521_118819522del | GRCh37 |
NC_000008.9:g.118888702_118888703del | NCBI36 |
NG_007455.2:g.309539_309540del , LRG_493:g.309539_309540del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684189.1:n.1286_1287del | ||
ENST00000378204.7:c.1819_1820del MANE Select | ENSP00000367446.3:p.Gly607IlefsTer? | |
ENST00000378204.6:c.1819_1820del | ENSP00000367446.2:p.Gly607IlefsTer? | |
ENST00000437196.1:c.*710_*711del | ENSP00000407299.1:n.*710_*711del | |
NM_000127.2:c.1819_1820del , LRG_493t1:c.1819_1820del | NP_000118.2:p.Gly607IlefsTer? | |
NM_000127.3:c.1819_1820del MANE Select | NP_000118.2:p.Gly607IlefsTer? |