Linked Data
ClinVar Variation Id:
551638
ClinVar RCV Id:
RCV000666756
dbSNP Id:
rs1555479227
MyVariant Identifiers:
chr15:g.74896283_74896284del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896283_74896284del , CM000677.2:g.74896283_74896284del | GRCh38 |
| NC_000015.9:g.75188624_75188625del , CM000677.1:g.75188624_75188625del | GRCh37 |
| NC_000015.8:g.72975677_72975678del | NCBI36 |
| NG_008921.1:g.11215_11216del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.802_803del MANE Select | ENSP00000318318.6:p.Met268ValfsTer? | |
| ENST00000323744.10:c.619_620del | ENSP00000318192.6:p.Met207ValfsTer? | |
| ENST00000352410.8:c.802_803del | ENSP00000318318.6:p.Met268ValfsTer? | |
| ENST00000535694.5:c.652_653del | ENSP00000440447.1:p.Met218ValfsTer? | |
| ENST00000562606.5:c.742_743del | ENSP00000457020.1:p.Met248ValfsTer15 | |
| ENST00000562800.5:c.256-1256_256-1255del | ENSP00000457619.1:n.256-1256_256-1255del | |
| ENST00000563422.5:c.802_803del | ENSP00000457885.1:p.Met268ValfsTer15 | |
| ENST00000563786.5:c.742_743del | ENSP00000455241.1:p.Met248ValfsTer? | |
| ENST00000564003.5:c.469_470del | ENSP00000454312.1:p.Met157ValfsTer15 | |
| ENST00000566377.5:c.802_803del | ENSP00000455405.1:p.Met268ValfsTer? | |
| ENST00000566556.1:n.850_851del | ||
| ENST00000567177.1:c.580_581del | ENSP00000457013.1:p.Met194ValfsTer? | |
| ENST00000569931.5:c.742_743del | ENSP00000455161.1:p.Met248ValfsTer? | |
| NM_001289155.1:c.802_803del | NP_001276084.1:p.Met268ValfsTer? | |
| NM_001289156.1:c.652_653del | NP_001276085.1:p.Met218ValfsTer? | |
| NM_001289157.1:c.619_620del | NP_001276086.1:p.Met207ValfsTer? | |
| NM_002435.2:c.802_803del | NP_002426.1:p.Met268ValfsTer? | |
| XM_011521592.1:c.790_791del | XP_011519894.1:p.Met264ValfsTer? | |
| XM_011521593.1:c.742_743del | XP_011519895.1:p.Met248ValfsTer? | |
| NM_001330372.1:c.742_743del | NP_001317301.1:p.Met248ValfsTer? | |
| XM_017022208.1:c.742_743del | XP_016877697.1:p.Met248ValfsTer? | |
| XM_017022209.2:c.652_653del | XP_016877698.1:p.Met218ValfsTer? | |
| NM_002435.3:c.802_803del MANE Select | NP_002426.1:p.Met268ValfsTer? | |
| NM_001289155.2:c.802_803del | NP_001276084.1:p.Met268ValfsTer? | |
| NM_001289156.2:c.652_653del | NP_001276085.1:p.Met218ValfsTer? | |
| NM_001289157.2:c.619_620del | NP_001276086.1:p.Met207ValfsTer? | |
| NM_001330372.2:c.742_743del | NP_001317301.1:p.Met248ValfsTer? |