HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23423485_23423489dup , CM000676.2:g.23423485_23423489dup | GRCh38 |
NC_000014.8:g.23892694_23892698dup , CM000676.1:g.23892694_23892698dup | GRCh37 |
NC_000014.7:g.22962534_22962538dup | NCBI36 |
NG_007884.1:g.17173_17177dup , LRG_384:g.17173_17177dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3099+58_3099+62dup MANE Select | ENSP00000347507.3:n.3099+58_3099+62dup | |
ENST00000355349.3:c.3099+58_3099+62dup | ENSP00000347507.3:n.3099+58_3099+62dup | |
NM_000257.3:c.3099+58_3099+62dup | NP_000248.2:n.3099+58_3099+62dup | |
XR_245686.3:n.3205+58_3205+62dup | ||
XM_017021340.1:c.3099+58_3099+62dup | XP_016876829.1:n.3099+58_3099+62dup | |
NM_000257.4:c.3099+58_3099+62dup MANE Select | NP_000248.2:n.3099+58_3099+62dup |