Linked Data
dbSNP Id:
rs532636914
ExAC:
11:68580079 TC / T
gnomAD v2:
11-68580079-TC-T
gnomAD v3:
11-68812611-TC-T
gnomAD v4:
11-68812611-TC-T
MyVariant Identifiers:
chr11:g.68580080del (hg19)
chr11:g.68812613del (hg38)
chr11:g.68812612del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68812614del , CM000673.2:g.68812614del | GRCh38 |
| NC_000011.9:g.68580082del , CM000673.1:g.68580082del | GRCh37 |
| NC_000011.8:g.68336658del | NCBI36 |
| NG_011801.1:g.34320del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.142-36del MANE Select | ENSP00000265641.4:n.142-36del | |
| ENST00000265641.9:c.142-36del | ENSP00000265641.4:n.142-36del | |
| ENST00000376618.6:c.142-36del | ENSP00000365803.2:n.142-36del | |
| ENST00000539743.5:c.142-36del | ENSP00000446108.1:n.142-36del | |
| ENST00000540367.5:c.142-36del | ENSP00000439084.1:n.142-36del | |
| ENST00000561996.1:c.142-36del | ENSP00000457663.1:n.142-36del | |
| ENST00000565318.5:c.142-36del | ENSP00000457826.1:n.142-36del | |
| ENST00000569129.5:c.142-36del | ENSP00000455116.1:n.142-36del | |
| NM_001031847.2:c.142-36del | NP_001027017.1:n.142-36del | |
| NM_001876.3:c.142-36del | NP_001867.2:n.142-36del | |
| XM_005273762.1:c.238-36del | XP_005273819.1:n.238-36del | |
| XM_005273763.1:c.238-36del | XP_005273820.1:n.238-36del | |
| XM_005273762.3:c.238-36del | XP_005273819.1:n.238-36del | |
| XM_017017220.1:c.142-36del | XP_016872709.1:n.142-36del | |
| NM_001876.4:c.142-36del MANE Select | NP_001867.2:n.142-36del | |
| NM_001031847.3:c.142-36del | NP_001027017.1:n.142-36del |