Linked Data
ClinVar Variation Id:
193942
ClinVar RCV Id:
RCV000174177
dbSNP Id:
rs768326968
ExAC:
1:78401495 AT / A
gnomAD v2:
1-78401495-AT-A
gnomAD v4:
1-77935810-AT-A
MyVariant Identifiers:
chr1:g.78401503del (hg19)
chr1:g.78401496del (hg19)
chr1:g.77935818del (hg38)
chr1:g.77935811del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77935818del , CM000663.2:g.77935818del | GRCh38 |
| NC_000001.10:g.78401503del , CM000663.1:g.78401503del | GRCh37 |
| NC_000001.9:g.78174091del | NCBI36 |
| NG_016625.1:g.52304del , LRG_442:g.52304del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334785.12:c.1252-5del MANE Select | ENSP00000333938.7:n.1252-5del | |
| ENST00000330010.12:c.1060-5del | ENSP00000327363.8:n.1060-5del | |
| ENST00000334785.11:c.1252-5del | ENSP00000333938.7:n.1252-5del | |
| ENST00000342754.5:c.951-5del | ||
| ENST00000440324.5:c.1210-5del | ENSP00000411902.1:n.1210-5del | |
| ENST00000464998.1:n.712-5del | ||
| ENST00000480732.2:n.826-5del | ||
| NM_001172309.1:c.1060-5del | NP_001165780.1:n.1060-5del | |
| NM_144573.3:c.1252-5del , LRG_442t1:c.1252-5del | NP_653174.3:n.1252-5del | |
| XM_005271322.2:c.1252-5del | XP_005271379.1:n.1252-5del | |
| XM_005271323.2:c.1210-5del | XP_005271380.1:n.1210-5del | |
| XM_005271324.3:c.1060-5del | XP_005271381.1:n.1060-5del | |
| XM_005271325.2:c.1251+2339del | XP_005271382.1:n.1251+2339del | |
| XM_005271326.2:c.1018-5del | XP_005271383.1:n.1018-5del | |
| XM_005271327.2:c.835-5del | XP_005271384.1:n.835-5del | |
| XM_005271322.4:c.1252-5del | XP_005271379.1:n.1252-5del | |
| XM_005271323.4:c.1210-5del | XP_005271380.1:n.1210-5del | |
| XM_005271324.5:c.1060-5del | XP_005271381.1:n.1060-5del | |
| XM_005271325.4:c.1251+2339del | XP_005271382.1:n.1251+2339del | |
| XM_005271326.4:c.1018-5del | XP_005271383.1:n.1018-5del | |
| XM_005271327.4:c.835-5del | XP_005271384.1:n.835-5del | |
| NM_001172309.2:c.1060-5del | NP_001165780.1:n.1060-5del | |
| NM_144573.4:c.1252-5del MANE Select | NP_653174.3:n.1252-5del |