Linked Data
ClinVar Variation Id:
556156
ClinVar RCV Id:
RCV000672115
dbSNP Id:
rs1450080299
gnomAD v3:
4-1002786-ACCACACGGTGGGCGTCCTGGCCAGCGC-A
gnomAD v4:
4-1002786-ACCACACGGTGGGCGTCCTGGCCAGCGC-A
MyVariant Identifiers:
chr4:g.996575_996601del (hg19)
chr4:g.1002791_1002817del (hg38)
chr4:g.1002787_1002813del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002791_1002817del , CM000666.2:g.1002791_1002817del | GRCh38 |
| NC_000004.11:g.996579_996605del , CM000666.1:g.996579_996605del | GRCh37 |
| NC_000004.10:g.986579_986605del | NCBI36 |
| NG_008103.1:g.20795_20821del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1249_1275del | ENSP00000247933.4:p.Thr417_His425del | |
| ENST00000514224.2:c.1249_1275del MANE Select | ENSP00000425081.2:p.Thr417_His425del | |
| ENST00000652070.1:n.1305_1331del | ||
| ENST00000247933.8:c.1249_1275del | ENSP00000247933.4:p.Thr417_His425del | |
| ENST00000502829.1:n.51_77del | ||
| ENST00000514224.1:c.853_879del | ENSP00000425081.1:p.Thr285_His293del | |
| ENST00000514698.5:n.1356_1382del | ||
| NM_000203.4:c.1249_1275del | NP_000194.2:p.Thr417_His425del | |
| NR_110313.1:n.1337_1363del | ||
| XM_006713882.2:c.853_879del | XP_006713945.1:p.Thr285_His293del | |
| XM_011513459.1:c.1315_1341del | XP_011511761.1:p.Thr439_His447del | |
| XM_011513460.1:c.1108_1134del | XP_011511762.1:p.Thr370_His378del | |
| XM_011513461.1:c.1042_1068del | XP_011511763.1:p.Thr348_His356del | |
| XM_011513462.1:c.961_987del | XP_011511764.1:p.Thr321_His329del | |
| XM_011513463.1:c.961_987del | XP_011511765.1:p.Thr321_His329del | |
| XR_924947.1:n.1318_1344del | ||
| NM_000203.5:c.1249_1275del MANE Select | NP_000194.2:p.Thr417_His425del | |
| NM_001363576.1:c.853_879del | NP_001350505.1:p.Thr285_His293del | |
| XM_011513461.2:c.1042_1068del | XP_011511763.1:p.Thr348_His356del | |
| XM_017008163.1:c.289_315del | XP_016863652.1:p.Thr97_His105del |