Linked Data
ClinVar Variation Id:
311241
ClinVar RCV Id:
RCV000347217
dbSNP Id:
rs886049992
gnomAD v2:
13-113773882-GAT-G
gnomAD v3:
13-113119568-GAT-G
gnomAD v4:
13-113119568-GAT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113119571_113119572del , CM000675.2:g.113119571_113119572del | GRCh38 |
| NC_000013.10:g.113773885_113773886del , CM000675.1:g.113773885_113773886del | GRCh37 |
| NC_000013.9:g.112821886_112821887del | NCBI36 |
| NG_009258.1:g.1773_1774del , LRG_548:g.1773_1774del | |
| NG_009262.1:g.18781_18782del , LRG_554:g.18781_18782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.*563_*564del MANE Select | ENSP00000329546.4:n.*563_*564del | |
| ENST00000346342.7:c.*563_*564del | ENSP00000329546.3:n.*563_*564del | |
| ENST00000375581.3:c.*563_*564del | ENSP00000364731.3:n.*563_*564del | |
| ENST00000541084.5:c.*563_*564del | ENSP00000442051.2:n.*563_*564del | |
| NM_000131.4:c.*563_*564del , LRG_554t1:c.*563_*564del | NP_000122.1:n.*563_*564del | |
| NM_001267554.1:c.*563_*564del | NP_001254483.1:n.*563_*564del | |
| NM_019616.3:c.*563_*564del , LRG_554t2:c.*563_*564del | NP_062562.1:n.*563_*564del | |
| NR_051961.1:n.1985_1986del | ||
| XM_006719963.2:c.*563_*564del | XP_006720026.1:n.*563_*564del | |
| XM_011537474.1:c.*563_*564del | XP_011535776.1:n.*563_*564del | |
| XM_011537475.1:c.*563_*564del | XP_011535777.1:n.*563_*564del | |
| XM_011537476.1:c.*563_*564del | XP_011535778.1:n.*563_*564del | |
| XM_011537477.1:c.*563_*564del | XP_011535779.1:n.*563_*564del | |
| XM_006719963.3:c.*563_*564del | XP_006720026.2:n.*563_*564del | |
| XM_011537474.2:c.*563_*564del | XP_011535776.2:n.*563_*564del | |
| XM_011537475.2:c.*563_*564del | XP_011535777.2:n.*563_*564del | |
| XM_011537476.2:c.*563_*564del | XP_011535778.1:n.*563_*564del | |
| NM_019616.4:c.*563_*564del MANE Select | NP_062562.1:n.*563_*564del | |
| NR_051961.2:n.1982_1983del | ||
| NM_001267554.2:c.*563_*564del | NP_001254483.1:n.*563_*564del |