HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21748506_21748509dup , CM000669.2:g.21748506_21748509dup | GRCh38 |
NC_000007.13:g.21788124_21788127dup , CM000669.1:g.21788124_21788127dup | GRCh37 |
NC_000007.12:g.21754649_21754652dup | NCBI36 |
NG_012886.2:g.210292_210295dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.8511-74_8511-71dup MANE Select | ENSP00000475939.1:n.8511-74_8511-71dup | |
ENST00000328843.10:c.8532-74_8532-71dup | ENSP00000330671.7:n.8532-74_8532-71dup | |
ENST00000409508.7:c.8511-74_8511-71dup | ENSP00000475939.1:n.8511-74_8511-71dup | |
ENST00000620169.4:c.8532-74_8532-71dup | ENSP00000481693.1:n.8532-74_8532-71dup | |
NM_001277115.1:c.8511-74_8511-71dup | NP_001264044.1:n.8511-74_8511-71dup | |
NM_001277115.2:c.8511-74_8511-71dup MANE Select | NP_001264044.1:n.8511-74_8511-71dup |