Linked Data
ClinVar Variation Id:
2943295
ClinVar RCV Id:
RCV003800413
dbSNP Id:
rs1553226904
gnomAD v2:
1-147230646-ATCT-A
gnomAD v3:
1-147758538-ATCT-A
gnomAD v4:
1-147758538-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147758544_147758546del , CM000663.2:g.147758544_147758546del | GRCh38 |
| NC_000001.10:g.147230652_147230654del , CM000663.1:g.147230652_147230654del | GRCh37 |
| NC_000001.9:g.145697276_145697278del | NCBI36 |
| NG_009369.2:g.19834_19836del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579774.3:c.698_700del MANE Select | ENSP00000463851.1:p.Lys233del | |
| ENST00000430508.1:c.698_700del | ENSP00000407645.1:p.Lys233del | |
| ENST00000579774.2:c.698_700del | ENSP00000463851.1:p.Lys233del | |
| ENST00000621517.1:c.698_700del | ENSP00000484552.1:p.Lys233del | |
| NM_005266.6:c.698_700del | NP_005257.2:p.Lys233del | |
| NM_181703.3:c.698_700del | NP_859054.1:p.Lys233del | |
| XM_005272951.3:c.698_700del | XP_005273008.1:p.Lys233del | |
| XM_011509415.1:c.698_700del | XP_011507717.1:p.Lys233del | |
| XR_922078.1:n.434-19017_434-19015del | ||
| XR_922079.1:n.434-19017_434-19015del | ||
| XM_005272951.4:c.698_700del | XP_005273008.1:p.Lys233del | |
| XM_017001044.1:c.698_700del | XP_016856533.1:p.Lys233del | |
| XR_922079.3:n.744-19017_744-19015del | ||
| NM_181703.4:c.698_700del MANE Select | NP_859054.1:p.Lys233del | |
| NM_005266.7:c.698_700del | NP_005257.2:p.Lys233del |