HGVS | Genome Assembly |
---|---|
NC_000019.10:g.4816233_4816234del , CM000681.2:g.4816233_4816234del | GRCh38 |
NC_000019.9:g.4816245_4816246del , CM000681.1:g.4816245_4816246del | GRCh37 |
NC_000019.8:g.4767245_4767246del | NCBI36 |
NG_031998.1:g.20511_20512del , LRG_358:g.20511_20512del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000248244.6:c.*7_*8del MANE Select | ENSP00000248244.4:n.*7_*8del | |
ENST00000248244.5:c.*7_*8del | ENSP00000248244.4:n.*7_*8del | |
NM_182919.3:c.*7_*8del , LRG_358t1:c.*7_*8del | NP_891549.1:n.*7_*8del | |
NM_001385678.1:c.*7_*8del | NP_001372607.1:n.*7_*8del | |
NM_001385679.1:c.*7_*8del | NP_001372608.1:n.*7_*8del | |
NM_001385680.1:c.*7_*8del | NP_001372609.1:n.*7_*8del | |
NM_182919.4:c.*7_*8del MANE Select | NP_891549.1:n.*7_*8del |