Linked Data
ClinVar Variation Id:
770309
ClinVar RCV Id:
RCV000949446
dbSNP Id:
rs757844522
ExAC:
22:36661307 AAG / A
gnomAD v2:
22-36661307-AAG-A
gnomAD v3:
22-36265261-AAG-A
gnomAD v4:
22-36265261-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36265264_36265265del , CM000684.2:g.36265264_36265265del | GRCh38 |
| NC_000022.10:g.36661310_36661311del , CM000684.1:g.36661310_36661311del | GRCh37 |
| NC_000022.9:g.34991256_34991257del | NCBI36 |
| NG_023228.1:g.17194_17195del , LRG_169:g.17194_17195del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427990.6:c.428_429del | ENSP00000391302.2:p.Glu143ValfsTer7 | |
| ENST00000433768.6:c.*190_*191del | ENSP00000392514.1:n.*190_*191del | |
| ENST00000438034.6:c.515_516del | ENSP00000404525.2:p.Glu172ValfsTer7 | |
| ENST00000397278.8:c.428_429del MANE Select | ENSP00000380448.4:p.Glu143ValfsTer7 | |
| ENST00000319136.8:c.476_477del | ENSP00000317674.4:p.Glu159ValfsTer7 | |
| ENST00000397278.7:c.428_429del | ENSP00000380448.3:p.Glu143ValfsTer7 | |
| ENST00000397279.8:c.428_429del | ENSP00000380449.4:p.Glu143ValfsTer7 | |
| ENST00000422706.5:c.428_429del | ENSP00000411507.1:p.Glu143ValfsTer7 | |
| ENST00000426053.5:c.374_375del | ENSP00000388477.1:p.Glu125ValfsTer7 | |
| ENST00000427990.5:c.428_429del | ENSP00000391302.1:p.Glu143ValfsTer7 | |
| NM_001136540.1:c.428_429del | NP_001130012.1:p.Glu143ValfsTer7 | |
| NM_001136541.1:c.374_375del | NP_001130013.1:p.Glu125ValfsTer7 | |
| NM_003661.3:c.428_429del | NP_003652.2:p.Glu143ValfsTer7 | |
| NM_145343.2:c.476_477del , LRG_169t1:c.476_477del | NP_663318.1:p.Glu159ValfsTer7 | |
| XM_005261796.2:c.374_375del | XP_005261853.1:p.Glu125ValfsTer7 | |
| XM_011530478.1:c.65_66del | XP_011528780.1:p.Glu22ValfsTer7 | |
| NM_001362927.1:c.374_375del | NP_001349856.1:p.Glu125ValfsTer7 | |
| XM_011530478.2:c.65_66del | XP_011528780.1:p.Glu22ValfsTer7 | |
| NM_001362927.2:c.374_375del | NP_001349856.1:p.Glu125ValfsTer7 | |
| NM_003661.4:c.428_429del MANE Select | NP_003652.2:p.Glu143ValfsTer7 | |
| NM_001136540.2:c.428_429del | NP_001130012.1:p.Glu143ValfsTer7 | |
| NM_001136541.2:c.374_375del | NP_001130013.1:p.Glu125ValfsTer7 | |
| NM_145343.3:c.476_477del | NP_663318.1:p.Glu159ValfsTer7 |