HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49636324_49636334del , CM000681.2:g.49636324_49636334del | GRCh38 |
NC_000019.9:g.50139581_50139591del , CM000681.1:g.50139581_50139591del | GRCh37 |
NC_000019.8:g.54831393_54831403del | NCBI36 |
NG_042222.1:g.8813_8823del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000246792.4:c.453+288_453+298del MANE Select | ENSP00000246792.2:n.453+288_453+298del | |
ENST00000246792.3:c.453+288_453+298del | ENSP00000246792.2:n.453+288_453+298del | |
ENST00000601532.1:n.593+288_593+298del | ||
NM_006270.3:c.453+288_453+298del | NP_006261.1:n.453+288_453+298del | |
NM_006270.4:c.453+288_453+298del | NP_006261.1:n.453+288_453+298del | |
NM_006270.5:c.453+288_453+298del MANE Select | NP_006261.1:n.453+288_453+298del |