HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21599713_21599714dup , CM000669.2:g.21599713_21599714dup | GRCh38 |
NC_000007.13:g.21639331_21639332dup , CM000669.1:g.21639331_21639332dup | GRCh37 |
NC_000007.12:g.21605856_21605857dup | NCBI36 |
NG_012886.2:g.61499_61500dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.2668-74_2668-73dup MANE Select | ENSP00000475939.1:n.2668-74_2668-73dup | |
ENST00000328843.10:c.2668-74_2668-73dup | ENSP00000330671.7:n.2668-74_2668-73dup | |
ENST00000409508.7:c.2668-74_2668-73dup | ENSP00000475939.1:n.2668-74_2668-73dup | |
ENST00000620169.4:c.2668-74_2668-73dup | ENSP00000481693.1:n.2668-74_2668-73dup | |
NM_001277115.1:c.2668-74_2668-73dup | NP_001264044.1:n.2668-74_2668-73dup | |
NM_001277115.2:c.2668-74_2668-73dup MANE Select | NP_001264044.1:n.2668-74_2668-73dup |