Linked Data
ClinVar Variation Id:
219302
ClinVar RCV Id:
RCV000206439
dbSNP Id:
rs864622012
COSMIC:
COSM5783234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134197779_134197781del , CM000667.2:g.134197779_134197781del | GRCh38 |
| NC_000005.9:g.133533470_133533472del , CM000667.1:g.133533470_133533472del | GRCh37 |
| NC_000005.8:g.133561369_133561371del | NCBI36 |
| NG_046997.1:g.33480_33482del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518409.2:n.1724_1726del | ||
| ENST00000519718.2:c.103-23758_103-23756del | ENSP00000430774.2:n.103-23758_103-23756del | |
| ENST00000522385.2:c.727_729del | ENSP00000430869.2:p.Phe243del | |
| ENST00000703308.1:c.751_753del | ENSP00000515254.1:p.Phe251del | |
| ENST00000703309.1:c.712_714del | ENSP00000515255.1:p.Phe238del | |
| ENST00000703310.1:c.*192_*194del | ENSP00000515256.1:n.*192_*194del | |
| ENST00000703311.1:c.727_729del | ENSP00000515257.1:p.Phe243del | |
| ENST00000703312.1:n.1249_1251del | ||
| ENST00000703313.1:c.*1454_*1456del | ENSP00000515258.1:n.*1454_*1456del | |
| ENST00000703316.1:n.1709_1711del | ||
| ENST00000703317.1:c.*893_*895del | ENSP00000515260.1:n.*893_*895del | |
| ENST00000703354.1:c.946_948del | ENSP00000515268.1:p.Phe316del | |
| ENST00000703359.1:n.430_432del | ||
| ENST00000481195.6:c.922_924del MANE Select | ENSP00000418447.1:p.Phe308del | |
| ENST00000472253.1:n.430_432del | ||
| ENST00000481195.5:c.922_924del | ENSP00000418447.1:p.Phe308del | |
| ENST00000519718.1:c.103-23758_103-23756del | ENSP00000430774.1:n.103-23758_103-23756del | |
| NM_002715.2:c.922_924del | NP_002706.1:p.Phe308del | |
| NM_001355019.1:c.727_729del | NP_001341948.1:p.Phe243del | |
| NM_002715.3:c.922_924del | NP_002706.1:p.Phe308del | |
| NR_149151.1:n.1177_1179del | ||
| NM_002715.4:c.922_924del MANE Select | NP_002706.1:p.Phe308del | |
| NM_001355019.2:c.727_729del | NP_001341948.1:p.Phe243del | |
| NR_149151.2:n.1177_1179del |