Linked Data
dbSNP Id:
rs1479120562
gnomAD v2:
12-121435309-GTCA-G
gnomAD v3:
12-120997506-GTCA-G
gnomAD v4:
12-120997506-GTCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997510_120997512del , CM000674.2:g.120997510_120997512del | GRCh38 |
| NC_000012.11:g.121435313_121435315del , CM000674.1:g.121435313_121435315del | GRCh37 |
| NC_000012.10:g.119919696_119919698del | NCBI36 |
| NG_011731.2:g.23765_23767del , LRG_522:g.23765_23767del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*93_*95del | ENSP00000453965.2:n.*93_*95del | |
| ENST00000257555.11:c.1346_1348del MANE Select | ENSP00000257555.5:p.Ile449del | |
| ENST00000257555.10:c.1346_1348del | ENSP00000257555.4:p.Ile449del | |
| ENST00000400024.6:c.1346_1348del | ENSP00000476181.1:p.Ile449del | |
| ENST00000402929.5:n.2212_2214del | ||
| ENST00000535955.5:n.62_64del | ||
| ENST00000538626.2:n.210_212del | ||
| ENST00000538646.5:c.*322_*324del | ENSP00000443964.1:n.*322_*324del | |
| ENST00000540108.1:c.*786_*788del | ENSP00000445445.1:n.*786_*788del | |
| ENST00000541395.5:c.1346_1348del | ENSP00000443112.1:p.Ile449del | |
| ENST00000541924.5:c.*360_*362del | ENSP00000440361.1:n.*360_*362del | |
| ENST00000543255.1:n.390_392del | ||
| ENST00000543427.5:c.809_811del | ENSP00000439721.2:p.Ile270del | |
| ENST00000544413.2:c.1346_1348del | ENSP00000438804.1:p.Ile449del | |
| ENST00000544574.5:c.*109_*111del | ENSP00000438565.1:n.*109_*111del | |
| ENST00000560968.5:c.1163_1165del | ||
| ENST00000615446.4:c.134_136del | ENSP00000483994.1:p.Ile45del | |
| ENST00000617366.4:c.587-124_587-122del | ENSP00000481967.1:n.587-124_587-122del | |
| NM_000545.5:c.1346_1348del , LRG_522t1:c.1346_1348del | NP_000536.5:p.Ile449del | |
| NM_000545.6:c.1346_1348del | NP_000536.5:p.Ile449del | |
| NM_001306179.1:c.1346_1348del | NP_001293108.1:p.Ile449del | |
| XM_005253931.2:c.1346_1348del | XP_005253988.1:p.Ile449del | |
| XM_024449168.1:c.1346_1348del | XP_024304936.1:p.Ile449del | |
| NM_000545.8:c.1346_1348del MANE Select | NP_000536.6:p.Ile449del | |
| NM_001306179.2:c.1346_1348del | NP_001293108.2:p.Ile449del |