Linked Data
ClinVar Variation Id:
420357
ClinVar RCV Id:
RCV000478711
dbSNP Id:
rs1064794430
gnomAD v2:
1-236958985-AAGG-A
gnomAD v3:
1-236795685-AAGG-A
gnomAD v4:
1-236795685-AAGG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236795691_236795693del , CM000663.2:g.236795691_236795693del | GRCh38 |
| NC_000001.10:g.236958991_236958993del , CM000663.1:g.236958991_236958993del | GRCh37 |
| NC_000001.9:g.235025614_235025616del | NCBI36 |
| NG_008959.1:g.5411_5413del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.-13_-11del MANE Select | ENSP00000355536.5:n.-13_-11del | |
| ENST00000535889.6:c.-13_-11del | ENSP00000441845.1:n.-13_-11del | |
| ENST00000650888.1:c.-13_-11del | ENSP00000498393.1:n.-13_-11del | |
| ENST00000651455.1:c.-13_-11del | ENSP00000498963.1:n.-13_-11del | |
| ENST00000652435.1:c.-146_-144del | ENSP00000505932.1:n.-146_-144del | |
| ENST00000674797.2:c.-146_-144del | ENSP00000502299.2:n.-146_-144del | |
| ENST00000679569.1:n.305_307del | ||
| ENST00000680454.1:n.432_434del | ||
| ENST00000366577.9:c.-13_-11del | ENSP00000355536.5:n.-13_-11del | |
| ENST00000463959.1:n.77_79del | ||
| ENST00000535889.5:c.-13_-11del | ENSP00000441845.1:n.-13_-11del | |
| NM_000254.2:c.-13_-11del | NP_000245.2:n.-13_-11del | |
| NM_001291939.1:c.-13_-11del | NP_001278868.1:n.-13_-11del | |
| NM_001291940.1:c.-1121_-1119del | NP_001278869.1:n.-1121_-1119del | |
| XM_005273141.3:c.-13_-11del | XP_005273198.1:n.-13_-11del | |
| XM_006711769.2:c.-13_-11del | XP_006711832.1:n.-13_-11del | |
| XM_011544193.1:c.-13_-11del | XP_011542495.1:n.-13_-11del | |
| XM_011544194.1:c.371_373del | XP_011542496.1:p.Gly124del | |
| XM_005273141.5:c.-13_-11del | XP_005273198.1:n.-13_-11del | |
| XM_011544194.3:c.371_373del | XP_011542496.1:p.Gly124del | |
| XM_017001329.2:c.371_373del | XP_016856818.1:p.Gly124del | |
| XM_017001330.2:c.371_373del | XP_016856819.1:p.Gly124del | |
| NM_001291940.2:c.-1121_-1119del | NP_001278869.1:n.-1121_-1119del | |
| NM_000254.3:c.-13_-11del MANE Select | NP_000245.2:n.-13_-11del |