HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23422157_23422160dup , CM000676.2:g.23422157_23422160dup | GRCh38 |
NC_000014.8:g.23891366_23891369dup , CM000676.1:g.23891366_23891369dup | GRCh37 |
NC_000014.7:g.22961206_22961209dup | NCBI36 |
NG_007884.1:g.18503_18506dup , LRG_384:g.18503_18506dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355349.4:c.3245+21_3245+24dup MANE Select | ENSP00000347507.3:n.3245+21_3245+24dup | |
ENST00000355349.3:c.3245+21_3245+24dup | ENSP00000347507.3:n.3245+21_3245+24dup | |
NM_000257.3:c.3245+21_3245+24dup | NP_000248.2:n.3245+21_3245+24dup | |
XR_245686.3:n.3351+21_3351+24dup | ||
XM_017021340.1:c.3245+21_3245+24dup | XP_016876829.1:n.3245+21_3245+24dup | |
NM_000257.4:c.3245+21_3245+24dup MANE Select | NP_000248.2:n.3245+21_3245+24dup |