Linked Data
ClinVar Variation Id:
2171258
ClinVar RCV Id:
RCV003095717
dbSNP Id:
rs778341850
ExAC:
19:45867382 GGA / G
gnomAD v2:
19-45867382-GGA-G
gnomAD v4:
19-45364124-GGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45364129_45364130del , CM000681.2:g.45364129_45364130del | GRCh38 |
| NC_000019.9:g.45867387_45867388del , CM000681.1:g.45867387_45867388del | GRCh37 |
| NC_000019.8:g.50559227_50559228del | NCBI36 |
| NG_007067.2:g.11462_11463del , LRG_461:g.11462_11463del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.816-7_816-6del | ENSP00000375808.4:n.816-7_816-6del | |
| ENST00000682414.1:c.816-7_816-6del | ENSP00000507019.1:n.816-7_816-6del | |
| ENST00000682508.1:n.845-7_845-6del | ||
| ENST00000684218.1:c.*74-7_*74-6del | ENSP00000507804.1:n.*74-7_*74-6del | |
| ENST00000684407.1:c.693-7_693-6del | ENSP00000507775.1:n.693-7_693-6del | |
| ENST00000684458.1:c.816-7_816-6del | ENSP00000508260.1:n.816-7_816-6del | |
| ENST00000391945.10:c.816-7_816-6del MANE Select | ENSP00000375809.4:n.816-7_816-6del | |
| ENST00000586131.6:c.744-7_744-6del | ENSP00000464887.1:n.744-7_744-6del | |
| ENST00000646507.1:n.913-7_913-6del | ||
| ENST00000391941.6:c.744-7_744-6del | ENSP00000375805.2:n.744-7_744-6del | |
| ENST00000391944.7:c.582-7_582-6del | ENSP00000375808.3:n.582-7_582-6del | |
| ENST00000391945.8:c.816-7_816-6del | ENSP00000375809.3:n.816-7_816-6del | |
| ENST00000485403.6:c.744-7_744-6del | ENSP00000431229.2:n.744-7_744-6del | |
| ENST00000586131.5:c.744-7_744-6del | ENSP00000464887.1:n.744-7_744-6del | |
| ENST00000586737.5:n.453-7_453-6del | ||
| ENST00000591309.5:c.*74-7_*74-6del | ENSP00000465207.1:n.*74-7_*74-6del | |
| NM_000400.3:c.816-7_816-6del , LRG_461t1:c.816-7_816-6del | NP_000391.1:n.816-7_816-6del | |
| NM_001130867.1:c.744-7_744-6del | NP_001124339.1:n.744-7_744-6del | |
| XM_011526611.1:c.738-7_738-6del | XP_011524913.1:n.738-7_738-6del | |
| XR_935763.1:n.863-7_863-6del | ||
| XM_011526611.2:c.738-7_738-6del | XP_011524913.1:n.738-7_738-6del | |
| XM_017026467.1:c.693-7_693-6del | XP_016881956.1:n.693-7_693-6del | |
| XR_001753633.2:n.863-7_863-6del | ||
| XR_001753634.2:n.863-7_863-6del | ||
| NM_000400.4:c.816-7_816-6del MANE Select | NP_000391.1:n.816-7_816-6del | |
| NM_001130867.2:c.744-7_744-6del | NP_001124339.1:n.744-7_744-6del |