Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648224_69648265del , CM000673.2:g.69648224_69648265del | GRCh38 |
| NC_000011.9:g.69462992_69463033del , CM000673.1:g.69462992_69463033del | GRCh37 |
| NC_000011.8:g.69172173_69172214del | NCBI36 |
| NG_007375.1:g.12120_12161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+82_723+123del MANE Select | ENSP00000227507.2:n.723+82_723+123del | |
| ENST00000227507.2:c.723+82_723+123del | ENSP00000227507.2:n.723+82_723+123del | |
| ENST00000542367.1:n.186+82_186+123del | ||
| NM_053056.2:c.723+82_723+123del | NP_444284.1:n.723+82_723+123del | |
| XM_006718653.2:c.747+82_747+123del | XP_006718716.1:n.747+82_747+123del | |
| NM_053056.3:c.723+82_723+123del MANE Select | NP_444284.1:n.723+82_723+123del |