HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423482_23423487dup , CM000676.2:g.23423482_23423487dup | GRCh38 |
NC_000014.8:g.23892691_23892696dup , CM000676.1:g.23892691_23892696dup | GRCh37 |
NC_000014.7:g.22962531_22962536dup | NCBI36 |
NG_007884.1:g.17220_17225dup , LRG_384:g.17220_17225dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+105_3099+110dup MANE Select | ENSP00000347507.3:n.3099+105_3099+110dup | |
ENST00000355349.3:c.3099+105_3099+110dup | ENSP00000347507.3:n.3099+105_3099+110dup | |
NM_000257.3:c.3099+105_3099+110dup | NP_000248.2:n.3099+105_3099+110dup | |
XR_245686.3:n.3205+105_3205+110dup | ||
XM_017021340.1:c.3099+105_3099+110dup | XP_016876829.1:n.3099+105_3099+110dup | |
NM_000257.4:c.3099+105_3099+110dup MANE Select | NP_000248.2:n.3099+105_3099+110dup |