Linked Data
dbSNP Id:
rs754106295
ExAC:
12:121431526 GA / G
gnomAD v2:
12-121431526-GA-G
gnomAD v4:
12-120993723-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120993726del , CM000674.2:g.120993726del | GRCh38 |
| NC_000012.11:g.121431529del , CM000674.1:g.121431529del | GRCh37 |
| NC_000012.10:g.119915912del | NCBI36 |
| NG_011731.2:g.19981del , LRG_522:g.19981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.713+20del | ENSP00000453965.2:n.713+20del | |
| ENST00000257555.11:c.713+20del MANE Select | ENSP00000257555.5:n.713+20del | |
| ENST00000257555.10:c.713+20del | ENSP00000257555.4:n.713+20del | |
| ENST00000400024.6:c.713+20del | ENSP00000476181.1:n.713+20del | |
| ENST00000402929.5:n.848+20del | ||
| ENST00000535955.5:n.43-3765del | ||
| ENST00000538626.2:n.191-3765del | ||
| ENST00000538646.5:c.527-438del | ENSP00000443964.1:n.527-438del | |
| ENST00000540108.1:c.*153+20del | ENSP00000445445.1:n.*153+20del | |
| ENST00000541395.5:c.713+20del | ENSP00000443112.1:n.713+20del | |
| ENST00000541924.5:c.713+20del | ENSP00000440361.1:n.713+20del | |
| ENST00000543427.5:c.633+100del | ENSP00000439721.2:n.633+100del | |
| ENST00000544413.2:c.713+20del | ENSP00000438804.1:n.713+20del | |
| ENST00000544574.5:c.73-2891del | ENSP00000438565.1:n.73-2891del | |
| ENST00000560968.5:c.856+20del | ||
| ENST00000615446.4:c.-257-2536del | ENSP00000483994.1:n.-257-2536del | |
| ENST00000617366.4:c.586+147del | ENSP00000481967.1:n.586+147del | |
| NM_000545.5:c.713+20del , LRG_522t1:c.713+20del | NP_000536.5:n.713+20del | |
| NM_000545.6:c.713+20del | NP_000536.5:n.713+20del | |
| NM_001306179.1:c.713+20del | NP_001293108.1:n.713+20del | |
| XM_005253931.2:c.713+20del | XP_005253988.1:n.713+20del | |
| XM_024449168.1:c.713+20del | XP_024304936.1:n.713+20del | |
| NM_000545.8:c.713+20del MANE Select | NP_000536.6:n.713+20del | |
| NM_001306179.2:c.713+20del | NP_001293108.2:n.713+20del |