Linked Data
ClinVar Variation Id:
1215331
ClinVar RCV Id:
RCV001585213
dbSNP Id:
rs200478576
gnomAD v2:
1-202565744-AGAAAAACAAG-A
gnomAD v3:
1-202596616-AGAAAAACAAG-A
gnomAD v4:
1-202596616-AGAAAAACAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.202596629_202596638del , CM000663.2:g.202596629_202596638del | GRCh38 |
| NC_000001.10:g.202565757_202565766del , CM000663.1:g.202565757_202565766del | GRCh37 |
| NC_000001.9:g.200832380_200832389del | NCBI36 |
| NG_041776.1:g.118798_118807del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367268.5:c.*131_*140del MANE Select | ENSP00000356237.4:n.*131_*140del | |
| ENST00000367267.5:c.*131_*140del | ENSP00000356236.1:n.*131_*140del | |
| ENST00000367268.4:c.*131_*140del | ENSP00000356237.4:n.*131_*140del | |
| NM_001136504.1:c.*131_*140del | NP_001129976.1:n.*131_*140del | |
| NM_177402.4:c.*131_*140del | NP_796376.2:n.*131_*140del | |
| XM_011509192.1:c.*131_*140del | XP_011507494.1:n.*131_*140del | |
| XM_011509192.2:c.*131_*140del | XP_011507494.1:n.*131_*140del | |
| XM_017000309.2:c.*131_*140del | XP_016855798.1:n.*131_*140del | |
| XM_017000311.2:c.*131_*140del | XP_016855800.1:n.*131_*140del | |
| XM_017000312.1:c.*131_*140del | XP_016855801.1:n.*131_*140del | |
| XM_017000313.1:c.*131_*140del | XP_016855802.1:n.*131_*140del | |
| NM_177402.5:c.*131_*140del MANE Select | NP_796376.2:n.*131_*140del |