Linked Data
ClinVar Variation Id:
372200
dbSNP Id:
rs750781063
ExAC:
1:235599882 TC / T
gnomAD v2:
1-235599882-TC-T
gnomAD v4:
1-235436567-TC-T
MyVariant Identifiers:
chr1:g.235599883del (hg19)
chr1:g.235436569del (hg38)
chr1:g.235436568del (hg38)
PubMed:
PMID:27666369
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235436569del , CM000663.2:g.235436569del | GRCh38 |
| NC_000001.10:g.235599884del , CM000663.1:g.235599884del | GRCh37 |
| NC_000001.9:g.233666507del | NCBI36 |
| NG_009230.1:g.74157del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.735del | ENSP00000355560.4:p.Leu246Ter | |
| ENST00000406207.5:c.924del | ENSP00000384571.1:p.Leu309Ter | |
| ENST00000472011.6:n.1648del | ||
| ENST00000543662.4:c.1077del | ENSP00000439170.1:p.Leu360Ter | |
| ENST00000642339.1:c.*621del | ENSP00000495425.1:n.*621del | |
| ENST00000642431.1:c.1501del | ||
| ENST00000642463.1:c.*822del | ENSP00000495007.1:n.*822del | |
| ENST00000642503.1:c.*698del | ENSP00000494334.1:n.*698del | |
| ENST00000642610.2:c.924del MANE Select | ENSP00000494796.1:p.Leu309Ter | |
| ENST00000642764.1:n.1755del | ||
| ENST00000642981.1:n.313del | ||
| ENST00000643125.1:c.738-753del | ENSP00000494102.1:n.738-753del | |
| ENST00000643142.1:c.*415del | ENSP00000494755.1:n.*415del | |
| ENST00000643238.1:c.638-753del | ENSP00000495916.1:n.638-753del | |
| ENST00000643410.1:c.*214del | ENSP00000495030.1:n.*214del | |
| ENST00000643487.1:n.1611del | ||
| ENST00000643524.1:c.*509del | ENSP00000494026.1:n.*509del | |
| ENST00000643615.1:c.*924del | ENSP00000496103.1:n.*924del | |
| ENST00000643993.1:n.1060del | ||
| ENST00000643994.1:c.*924del | ENSP00000496322.1:n.*924del | |
| ENST00000644037.1:c.*1134del | ENSP00000496408.1:n.*1134del | |
| ENST00000644055.1:c.*1549del | ENSP00000496307.1:n.*1549del | |
| ENST00000644126.1:n.2596del | ||
| ENST00000644217.1:c.924del | ENSP00000494646.1:p.Leu309Ter | |
| ENST00000644265.1:c.333-753del | ||
| ENST00000644578.1:c.738del | ENSP00000495953.1:p.Leu247Ter | |
| ENST00000644604.1:c.924del | ENSP00000495961.1:p.Leu309Ter | |
| ENST00000644680.1:c.*1445del | ENSP00000496173.1:n.*1445del | |
| ENST00000644838.1:c.*307del | ENSP00000495910.1:n.*307del | |
| ENST00000644910.1:c.1531del | ||
| ENST00000645205.1:c.924del | ENSP00000495823.1:p.Leu309Ter | |
| ENST00000645351.1:c.924del | ENSP00000494319.1:p.Leu309Ter | |
| ENST00000645551.1:c.*641del | ENSP00000495928.1:n.*641del | |
| ENST00000645578.1:c.*698del | ENSP00000496495.1:n.*698del | |
| ENST00000645582.1:c.*754del | ENSP00000494980.1:n.*754del | |
| ENST00000645655.1:c.924del | ENSP00000495202.1:p.Leu309Ter | |
| ENST00000645662.1:c.*423-753del | ENSP00000495964.1:n.*423-753del | |
| ENST00000645836.1:c.*698del | ENSP00000493915.1:n.*698del | |
| ENST00000645899.1:c.924del | ENSP00000496773.1:p.Leu309Ter | |
| ENST00000645964.1:c.*790del | ENSP00000494208.1:n.*790del | |
| ENST00000646104.1:c.*1392del | ENSP00000495475.1:n.*1392del | |
| ENST00000646186.1:c.*596del | ENSP00000493806.1:n.*596del | |
| ENST00000646281.1:c.924del | ENSP00000495225.1:p.Leu309Ter | |
| ENST00000646286.1:c.*817del | ENSP00000494291.1:n.*817del | |
| ENST00000646463.1:c.*689del | ENSP00000494541.1:n.*689del | |
| ENST00000646528.1:c.*1640del | ENSP00000496553.1:n.*1640del | |
| ENST00000646536.1:c.*214del | ENSP00000494801.1:n.*214del | |
| ENST00000646624.1:c.924del | ENSP00000494575.1:p.Leu309Ter | |
| ENST00000646821.1:c.*214del | ENSP00000495257.1:n.*214del | |
| ENST00000646842.1:n.408-753del | ||
| ENST00000646848.1:c.*139del | ENSP00000495831.1:n.*139del | |
| ENST00000647186.1:c.924del | ENSP00000494775.1:p.Leu309Ter | |
| ENST00000647233.1:n.1904del | ||
| ENST00000647322.1:c.555-753del | ||
| ENST00000647332.1:c.*409del | ENSP00000495024.1:n.*409del | |
| ENST00000647418.1:c.*698del | ENSP00000493552.1:n.*698del | |
| ENST00000647428.1:c.585del | ENSP00000495630.1:p.Leu196Ter | |
| ENST00000651186.1:c.585del | ENSP00000498645.1:p.Leu196Ter | |
| ENST00000366601.7:c.924del | ENSP00000355560.3:p.Leu309Ter | |
| ENST00000406207.4:c.924del | ENSP00000384571.1:p.Leu309Ter | |
| ENST00000472011.5:n.976del | ||
| ENST00000543662.3:c.1077del | ENSP00000439170.1:p.Leu360Ter | |
| NM_001079515.2:c.924del | NP_001072983.1:p.Leu309Ter | |
| NM_001287801.1:c.1077del | NP_001274730.1:p.Leu360Ter | |
| NM_001287802.1:c.585del | NP_001274731.1:p.Leu196Ter | |
| NM_003193.4:c.924del | NP_003184.1:p.Leu309Ter | |
| NM_003193.5:c.924del MANE Select | NP_003184.1:p.Leu309Ter | |
| NM_001079515.3:c.924del | NP_001072983.1:p.Leu309Ter | |
| NM_001287801.2:c.1077del | NP_001274730.1:p.Leu360Ter | |
| NM_001287802.2:c.585del | NP_001274731.1:p.Leu196Ter |