HGVS | Genome Assembly |
---|---|
NC_000019.10:g.35848026_35848028dup , CM000681.2:g.35848026_35848028dup | GRCh38 |
NC_000019.9:g.36338928_36338930dup , CM000681.1:g.36338928_36338930dup | GRCh37 |
NC_000019.8:g.41030768_41030770dup | NCBI36 |
NG_013356.2:g.26260_26262dup , LRG_693:g.26260_26262dup | |
NG_051206.1:g.1392_1394dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378910.10:c.1440+13_1440+15dup MANE Select | ENSP00000368190.4:n.1440+13_1440+15dup | |
ENST00000353632.6:c.1440+13_1440+15dup | ENSP00000343634.5:n.1440+13_1440+15dup | |
ENST00000378910.9:c.1440+13_1440+15dup | ENSP00000368190.4:n.1440+13_1440+15dup | |
ENST00000592132.1:n.460_462dup | ||
NM_004646.3:c.1440+13_1440+15dup , LRG_693t1:c.1440+13_1440+15dup | NP_004637.1:n.1440+13_1440+15dup | |
NM_004646.4:c.1440+13_1440+15dup MANE Select | NP_004637.1:n.1440+13_1440+15dup |