HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23413740_23413745dup , CM000676.2:g.23413740_23413745dup | GRCh38 |
NC_000014.8:g.23882949_23882954dup , CM000676.1:g.23882949_23882954dup | GRCh37 |
NC_000014.7:g.22952789_22952794dup | NCBI36 |
NG_007884.1:g.26919_26924dup , LRG_384:g.26919_26924dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.5790+16_5790+21dup MANE Select | ENSP00000347507.3:n.5790+16_5790+21dup | |
ENST00000355349.3:c.5790+16_5790+21dup | ENSP00000347507.3:n.5790+16_5790+21dup | |
NM_000257.3:c.5790+16_5790+21dup | NP_000248.2:n.5790+16_5790+21dup | |
XM_017021340.1:c.5790+16_5790+21dup | XP_016876829.1:n.5790+16_5790+21dup | |
NM_000257.4:c.5790+16_5790+21dup MANE Select | NP_000248.2:n.5790+16_5790+21dup |