Linked Data
gnomAD v2:
19-39062957-GGGGGTGGGGGCAGTGCTGGAGCACTGGCT-G
MyVariant Identifiers:
chr19:g.39062962_39062992delinsCT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572322_38572350del , CM000681.2:g.38572322_38572350del | GRCh38 |
| NC_000019.9:g.39062962_39062990del , CM000681.1:g.39062962_39062990del | GRCh37 |
| NC_000019.8:g.43754802_43754830del | NCBI36 |
| NG_008866.1:g.143623_143651del , LRG_766:g.143623_143651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.934+52_934+80del | ||
| ENST00000688602.1:c.2331+52_2331+80del | ||
| ENST00000689936.1:c.2303+52_2303+80del | ||
| ENST00000359596.8:c.13998+52_13998+80del MANE Select | ENSP00000352608.2:n.13998+52_13998+80del | |
| ENST00000355481.8:c.13983+52_13983+80del | ENSP00000347667.3:n.13983+52_13983+80del | |
| ENST00000359596.7:c.13998+52_13998+80del | ENSP00000352608.2:n.13998+52_13998+80del | |
| ENST00000360985.7:c.13980+52_13980+80del | ENSP00000354254.4:n.13980+52_13980+80del | |
| NM_000540.2:c.13998+52_13998+80del , LRG_766t1:c.13998+52_13998+80del | NP_000531.2:n.13998+52_13998+80del | |
| NM_001042723.1:c.13983+52_13983+80del | NP_001036188.1:n.13983+52_13983+80del | |
| XM_006723317.1:c.13980+52_13980+80del | XP_006723380.1:n.13980+52_13980+80del | |
| XM_006723319.1:c.13965+52_13965+80del | XP_006723382.1:n.13965+52_13965+80del | |
| XM_011527204.1:c.13995+52_13995+80del | XP_011525506.1:n.13995+52_13995+80del | |
| XM_011527205.1:c.13911+52_13911+80del | XP_011525507.1:n.13911+52_13911+80del | |
| XM_006723317.2:c.13980+52_13980+80del | XP_006723380.1:n.13980+52_13980+80del | |
| XM_006723319.2:c.13965+52_13965+80del | XP_006723382.1:n.13965+52_13965+80del | |
| XM_011527205.2:c.13911+52_13911+80del | XP_011525507.1:n.13911+52_13911+80del | |
| NM_000540.3:c.13998+52_13998+80del MANE Select | NP_000531.2:n.13998+52_13998+80del | |
| NM_001042723.2:c.13983+52_13983+80del | NP_001036188.1:n.13983+52_13983+80del |