Linked Data
ClinVar Variation Id:
804512
ClinVar RCV Id:
RCV000991503
dbSNP Id:
rs759061098
ExAC:
1:227170602 TCAA / T
gnomAD v2:
1-227170602-TCAA-T
gnomAD v3:
1-226982901-TCAA-T
gnomAD v4:
1-226982901-TCAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226982906_226982908del , CM000663.2:g.226982906_226982908del | GRCh38 |
| NC_000001.10:g.227170607_227170609del , CM000663.1:g.227170607_227170609del | GRCh37 |
| NC_000001.9:g.225237230_225237232del | NCBI36 |
| NG_012825.1:g.47670_47672del | |
| NG_012825.2:g.90371_90373del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.952_954del MANE Select | ENSP00000355739.3:p.Asn318del | |
| ENST00000366779.6:c.*5679_*5681del | ENSP00000355741.2:n.*5679_*5681del | |
| ENST00000676884.1:c.*5801_*5803del | ENSP00000503200.1:n.*5801_*5803del | |
| ENST00000366777.3:c.952_954del | ENSP00000355739.3:p.Asn318del | |
| ENST00000366778.5:c.796_798del | ENSP00000355740.1:p.Asn266del | |
| ENST00000366779.5:c.952_954del | ENSP00000355741.1:p.Asn318del | |
| ENST00000478406.5:n.931_933del | ||
| ENST00000485462.5:n.342_344del | ||
| NM_020247.4:c.952_954del | NP_064632.2:p.Asn318del | |
| XM_005273201.1:c.952_954del | XP_005273258.1:p.Asn318del | |
| XM_011544238.1:c.952_954del | XP_011542540.1:p.Asn318del | |
| XM_011544239.1:c.952_954del | XP_011542541.1:p.Asn318del | |
| XM_011544240.1:c.952_954del | XP_011542542.1:p.Asn318del | |
| XM_011544241.1:c.952_954del | XP_011542543.1:p.Asn318del | |
| XM_011544239.2:c.952_954del | XP_011542541.1:p.Asn318del | |
| XM_011544241.2:c.952_954del | XP_011542543.1:p.Asn318del | |
| XM_017001852.1:c.952_954del | XP_016857341.1:p.Asn318del | |
| XM_024448517.1:c.952_954del | XP_024304285.1:p.Asn318del | |
| XM_024448518.1:c.952_954del | XP_024304286.1:p.Asn318del | |
| NM_020247.5:c.952_954del MANE Select | NP_064632.2:p.Asn318del |