HGVS | Genome Assembly |
---|---|
NC_000005.10:g.174725064_174725065dup , CM000667.2:g.174725064_174725065dup | GRCh38 |
NC_000005.9:g.174152067_174152068dup , CM000667.1:g.174152067_174152068dup | GRCh37 |
NC_000005.8:g.174084673_174084674dup | NCBI36 |
NG_008124.1:g.5493_5494dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000239243.7:c.379+26_379+27dup MANE Select | ENSP00000239243.5:n.379+26_379+27dup | |
ENST00000239243.6:c.379+26_379+27dup | ENSP00000239243.5:n.379+26_379+27dup | |
ENST00000507785.2:c.405_*1dup | ENSP00000427425.1:n.405_*1dup | |
NM_002449.4:c.379+26_379+27dup | NP_002440.2:n.379+26_379+27dup | |
NM_001363626.1:c.405_*1dup | NP_001350555.1:n.405_*1dup | |
NM_002449.5:c.379+26_379+27dup MANE Select | NP_002440.2:n.379+26_379+27dup | |
NM_001363626.2:c.405_*1dup | NP_001350555.1:n.405_*1dup |