MyVariant.info:
GRCh38
chr1:g.11966260_11966262del
GRCh38
chr1:g.11966258_11966260del
GRCh37
chr1:g.12026317_12026319del
GRCh37
chr1:g.12026315_12026317del
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11966260_11966262del , CM000663.2:g.11966260_11966262del | GRCh38 |
| NC_000001.10:g.12026317_12026319del , CM000663.1:g.12026317_12026319del | GRCh37 |
| NC_000001.9:g.11948904_11948906del | NCBI36 |
| NG_008159.1:g.36572_36574del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1594_1596del MANE Select | ENSP00000196061.4:p.Glu532del | |
| ENST00000196061.4:c.1594_1596del | ENSP00000196061.4:p.Glu532del | |
| ENST00000470133.1:n.208_210del | ||
| ENST00000491536.5:n.222_224del | ||
| NM_000302.3:c.1594_1596del | NP_000293.2:p.Glu532del | |
| NM_001316320.1:c.1735_1737del | NP_001303249.1:p.Glu579del | |
| XM_011541594.1:c.1675_1677del | XP_011539896.1:p.Glu559del | |
| XM_024447707.1:c.928_930del | XP_024303475.1:p.Glu310del | |
| NM_000302.4:c.1594_1596del MANE Select | NP_000293.2:p.Glu532del | |
| NM_001316320.2:c.1735_1737del | NP_001303249.1:p.Glu579del |