ClinGen Classification:
Classification
Uncertain Significance
Condition
Ebstein anomaly
VCEP
Cardiomyopathy VCEP
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23419913_23419915del , CM000676.2:g.23419913_23419915del | GRCh38 |
| NC_000014.8:g.23889122_23889124del , CM000676.1:g.23889122_23889124del | GRCh37 |
| NC_000014.7:g.22958962_22958964del | NCBI36 |
| NG_007884.1:g.20749_20751del , LRG_384:g.20749_20751del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3658_3660del MANE Select | ENSP00000347507.3:p.Glu1220del | |
| ENST00000355349.3:c.3658_3660del | ENSP00000347507.3:p.Glu1220del | |
| NM_000257.3:c.3658_3660del | NP_000248.2:p.Glu1220del | |
| XM_017021340.1:c.3658_3660del | XP_016876829.1:p.Glu1220del | |
| NM_000257.4:c.3658_3660del MANE Select | NP_000248.2:p.Glu1220del |