HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91279236_91279240dup , CM000676.2:g.91279236_91279240dup | GRCh38 |
NC_000014.8:g.91745580_91745584dup , CM000676.1:g.91745580_91745584dup | GRCh37 |
NC_000014.7:g.90815333_90815337dup | NCBI36 |
NG_033118.1:g.143608_143612dup | |
NG_033118.2:g.143608_143612dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000389857.11:c.4768+1_4768+5dup | ||
ENST00000331194.8:c.340+1_340+5dup | ||
ENST00000334448.5:n.580+1_580+5dup | ||
ENST00000389857.10:c.4768+1_4768+5dup | ||
ENST00000556726.5:c.996+1_996+5dup | ||
ENST00000557455.1:n.740+1_740+5dup | ||
NM_001080414.3:c.4768+1_4768+5dup | ||
XM_011536796.1:c.4660+1_4660+5dup | ||
XR_429316.2:n.5043+1_5043+5dup | ||
XM_011536796.2:c.4660+1_4660+5dup | ||
XM_017021336.1:c.1849+1_1849+5dup | ||
XR_429316.4:n.5041+1_5041+5dup | ||
NM_001080414.4:c.4768+1_4768+5dup |