MyVariant.info:
GRCh38
chr12:g.51920938del
GRCh38
chr12:g.51920933del
GRCh38
chr12:g.51920932del
GRCh37
chr12:g.52314722del
GRCh37
chr12:g.52314716del
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01397642 (NFE)
Genomes Max Group AF
0.00631182 (NFE)
Exomes Max Group AF
0.01527098 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920938del , CM000674.2:g.51920938del | GRCh38 |
| NC_000012.11:g.52314722del , CM000674.1:g.52314722del | GRCh37 |
| NC_000012.10:g.50600989del | NCBI36 |
| NG_009549.1:g.18521del , LRG_543:g.18521del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.*45del | ENSP00000455848.2:n.*45del | |
| ENST00000388922.9:c.*45del MANE Select | ENSP00000373574.4:n.*45del | |
| ENST00000388922.8:c.*45del | ENSP00000373574.4:n.*45del | |
| ENST00000419526.6:c.*45del | ENSP00000392492.2:n.*45del | |
| ENST00000550683.5:c.*45del | ENSP00000447884.1:n.*45del | |
| NM_000020.2:c.*45del , LRG_543t1:c.*45del | NP_000011.2:n.*45del | |
| NM_001077401.1:c.*45del | NP_001070869.1:n.*45del | |
| XM_005269235.2:c.*45del | XP_005269292.1:n.*45del | |
| XM_011539008.1:c.*45del | XP_011537310.1:n.*45del | |
| XM_024449279.1:c.*45del | XP_024305047.1:n.*45del | |
| NM_000020.3:c.*45del MANE Select | NP_000011.2:n.*45del | |
| NM_001077401.2:c.*45del | NP_001070869.1:n.*45del |