Linked Data
ClinVar Variation Id:
367852
ClinVar RCV Id:
RCV001731653
dbSNP Id:
rs374013599
ExAC:
X:123046536 GT / G
gnomAD v2:
X-123046536-GT-G
gnomAD v3:
X-123912686-GT-G
gnomAD v4:
X-123912686-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.123912700del , CM000685.2:g.123912700del | GRCh38 |
| NC_000023.10:g.123046550del , CM000685.1:g.123046550del | GRCh37 |
| NC_000023.9:g.122874231del | NCBI36 |
| NG_007264.1:g.57503del , LRG_19:g.57503del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371199.8:c.*5519del MANE Select | ENSP00000360242.3:n.*5519del | |
| ENST00000355640.3:c.*5519del | ENSP00000347858.3:n.*5519del | |
| ENST00000371199.7:c.*5519del | ENSP00000360242.3:n.*5519del | |
| ENST00000434753.7:c.*5519del | ENSP00000395230.3:n.*5519del | |
| NM_001167.3:c.*5519del , LRG_19t1:c.*5519del | NP_001158.2:n.*5519del | |
| NM_001204401.1:c.*5519del | NP_001191330.1:n.*5519del | |
| NR_037916.1:n.6263del | ||
| XM_006724754.2:c.*5519del | XP_006724817.1:n.*5519del | |
| NM_001167.4:c.*5519del MANE Select | NP_001158.2:n.*5519del | |
| NM_001204401.2:c.*5519del | NP_001191330.1:n.*5519del | |
| NM_001378590.1:c.*5519del | NP_001365519.1:n.*5519del | |
| NM_001378591.1:c.*5519del | NP_001365520.1:n.*5519del | |
| NM_001378592.1:c.*5519del | NP_001365521.1:n.*5519del | |
| NR_037916.2:n.6377del | ||
| NR_165803.1:n.6359del |