HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47839652dup , CM000681.2:g.47839652dup | GRCh38 |
NC_000019.9:g.48342909dup , CM000681.1:g.48342909dup | GRCh37 |
NC_000019.8:g.53034721dup | NCBI36 |
NG_008605.1:g.22811dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221996.12:c.585dup MANE Select | ENSP00000221996.5:p.Ala196ArgfsTer? | |
ENST00000221996.11:c.585dup | ENSP00000221996.5:p.Ala196ArgfsTer? | |
ENST00000539067.5:c.585dup | ENSP00000445565.1:p.Ala196ArgfsTer? | |
ENST00000613299.1:c.*307dup | ENSP00000478106.1:n.*307dup | |
NM_000554.4:c.585dup | NP_000545.1:p.Ala196ArgfsTer? | |
NM_000554.5:c.585dup | NP_000545.1:p.Ala196ArgfsTer? | |
NM_000554.6:c.585dup MANE Select | NP_000545.1:p.Ala196ArgfsTer? |