HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255384_133255387dup , CM000671.2:g.133255384_133255387dup | GRCh38 |
NC_000009.11:g.136130771_136130774dup , CM000671.1:g.136130771_136130774dup | GRCh37 |
NC_000009.10:g.135120592_135120595dup | NCBI36 |
NG_006669.1:g.22282_22285dup | |
NG_006669.2:g.24830_24833dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1374_1377dup | ||
ENST00000647353.1:n.54-4234_54-4231dup | ||
ENST00000679909.1:c.28+19776_28+19779dup | ENSP00000506089.1:n.28+19776_28+19779dup | |
ENST00000453660.3:n.1356_1359dup | ||
ENST00000611156.4:c.*280_*283dup | ENSP00000483265.1:n.*280_*283dup | |
NM_020469.2:c.*280_*283dup | NP_065202.2:n.*280_*283dup | |
NM_020469.3:c.*280_*283dup | NP_065202.2:n.*280_*283dup |