HGVS | Genome Assembly |
---|---|
NC_000002.12:g.240869049_240869122dup , CM000664.2:g.240869049_240869122dup | GRCh38 |
NC_000002.11:g.241808466_241808539dup , CM000664.1:g.241808466_241808539dup | GRCh37 |
NC_000002.10:g.241457139_241457212dup | NCBI36 |
NG_008005.1:g.5305_5378dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000307503.4:c.165+19_166-48dup MANE Select | ENSP00000302620.3:n.165+19_166-48dup | |
ENST00000307503.3:c.165+19_166-48dup | ENSP00000302620.3:n.165+19_166-48dup | |
ENST00000472436.1:n.185+19_186-48dup | ||
NM_000030.2:c.165+19_166-48dup | NP_000021.1:n.165+19_166-48dup | |
XR_924060.1:n.405+1116_405+1189dup | ||
NM_000030.3:c.165+19_166-48dup MANE Select | NP_000021.1:n.165+19_166-48dup |