HGVS | Genome Assembly |
---|---|
NC_000007.14:g.37914413_37914419del , CM000669.2:g.37914413_37914419del | GRCh38 |
NC_000007.13:g.37954015_37954021del , CM000669.1:g.37954015_37954021del | GRCh37 |
NC_000007.12:g.37920540_37920546del | NCBI36 |
NG_052980.1:g.7506_7512del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000436072.7:c.481_487del (SFRP4) MANE Select | ENSP00000410715.2:p.Val161LysfsTer11 | |
ENST00000436072.6:c.481_487del (SFRP4) | ENSP00000410715.2:p.Val161LysfsTer11 | |
ENST00000447200.2:c.79_85del (SFRP4) | ENSP00000402262.2:p.Val27LysfsTer11 | |
ENST00000476620.1:c.-37-34427_-37-34421del (EPDR1) | ENSP00000425858.1:n.-37-34427_-37-34421del | |
NM_003014.3:c.481_487del (SFRP4) | NP_003005.2:p.Val161LysfsTer11 | |
NM_003014.4:c.481_487del (SFRP4) MANE Select | NP_003005.2:p.Val161LysfsTer11 |