HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48966125_48966126dup , CM000681.2:g.48966125_48966126dup | GRCh38 |
NC_000019.9:g.49469382_49469383dup , CM000681.1:g.49469382_49469383dup | GRCh37 |
NC_000019.8:g.54161194_54161195dup | NCBI36 |
NG_008152.1:g.5817_5818dup | |
NG_012923.1:g.32228_32229dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331825.11:c.250-156_250-155dup MANE Select | ENSP00000366525.2:n.250-156_250-155dup | |
ENST00000331825.10:c.250-156_250-155dup | ENSP00000366525.2:n.250-156_250-155dup | |
ENST00000622577.2:c.250-156_250-155dup | ENSP00000484043.1:n.250-156_250-155dup | |
NM_000146.3:c.250-156_250-155dup | NP_000137.2:n.250-156_250-155dup | |
XM_024451447.1:c.760-156_760-155dup | XP_024307215.1:n.760-156_760-155dup | |
NM_000146.4:c.250-156_250-155dup MANE Select | NP_000137.2:n.250-156_250-155dup |