Linked Data
ClinVar Variation Id:
156220
ClinVar RCV Id:
RCV000144241
dbSNP Id:
rs587777740
PubMed:
PMID:25192046
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.122303787del , CM000669.2:g.122303787del | GRCh38 |
| NC_000007.13:g.121943841del , CM000669.1:g.121943841del | GRCh37 |
| NC_000007.12:g.121731077del | NCBI36 |
| NG_041775.1:g.5727del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442488.7:c.653del (FEZF1) MANE Select | ENSP00000411145.2:p.Phe218SerfsTer13 | |
| ENST00000427185.2:c.503del (FEZF1) | ENSP00000392727.2:p.Phe168SerfsTer13 | |
| ENST00000442488.6:c.653del (FEZF1) | ENSP00000411145.2:p.Phe218SerfsTer13 | |
| NM_001024613.3:c.653del (FEZF1) | NP_001019784.2:p.Phe218SerfsTer13 | |
| NM_001160264.2:c.503del (FEZF1) | NP_001153736.1:p.Phe168SerfsTer13 | |
| NR_036484.1:n.130del (FEZF1-AS1) | ||
| XM_005250337.2:c.653del (FEZF1) | XP_005250394.1:p.Phe218SerfsTer13 | |
| XM_011516200.1:c.653del (FEZF1) | XP_011514502.1:p.Phe218SerfsTer13 | |
| XM_011516201.1:c.653del (FEZF1) | XP_011514503.1:p.Phe218SerfsTer13 | |
| XM_011516202.1:c.503del (FEZF1) | XP_011514504.1:p.Phe168SerfsTer13 | |
| XM_005250337.3:c.653del (FEZF1) | XP_005250394.1:p.Phe218SerfsTer13 | |
| XM_011516202.2:c.503del (FEZF1) | XP_011514504.1:p.Phe168SerfsTer13 | |
| NM_001024613.4:c.653del (FEZF1) MANE Select | NP_001019784.2:p.Phe218SerfsTer13 |