HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128937873_128937877dup , CM000669.2:g.128937873_128937877dup | GRCh38 |
NC_000007.13:g.128577927_128577931dup , CM000669.1:g.128577927_128577931dup | GRCh37 |
NC_000007.12:g.128365163_128365167dup | NCBI36 |
NG_012306.1:g.4934_4938dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700148.1:n.52+39_52+43dup | ||
ENST00000489702.6:c.-12+39_-12+43dup | ENSP00000418037.2:n.-12+39_-12+43dup | |
ENST00000652525.1:c.-12+179_-12+183dup | ENSP00000498293.1:n.-12+179_-12+183dup | |
ENST00000489702.5:c.-12+39_-12+43dup | ENSP00000418037.1:n.-12+39_-12+43dup | |
XM_011516160.1:c.-12+39_-12+43dup | XP_011514462.1:n.-12+39_-12+43dup | |
NM_001347928.1:c.-12+608_-12+612dup | NP_001334857.1:n.-12+608_-12+612dup | |
NM_001347928.2:c.-12+608_-12+612dup | NP_001334857.1:n.-12+608_-12+612dup |