Linked Data
dbSNP Id:
rs759440377
ExAC:
12:121435489 ACAG / A
gnomAD v2:
12-121435489-ACAG-A
gnomAD v4:
12-120997686-ACAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997690_120997692del , CM000674.2:g.120997690_120997692del | GRCh38 |
| NC_000012.11:g.121435493_121435495del , CM000674.1:g.121435493_121435495del | GRCh37 |
| NC_000012.10:g.119919876_119919878del | NCBI36 |
| NG_011731.2:g.23945_23947del , LRG_522:g.23945_23947del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*248+25_*248+27del | ENSP00000453965.2:n.*248+25_*248+27del | |
| ENST00000257555.11:c.1501+25_1501+27del MANE Select | ENSP00000257555.5:n.1501+25_1501+27del | |
| ENST00000257555.10:c.1501+25_1501+27del | ENSP00000257555.4:n.1501+25_1501+27del | |
| ENST00000400024.6:c.1526_1528del | ENSP00000476181.1:p.Ala509del | |
| ENST00000402929.5:n.2392_2394del | ||
| ENST00000535955.5:n.242_244del | ||
| ENST00000538626.2:n.390_392del | ||
| ENST00000538646.5:c.*502_*504del | ENSP00000443964.1:n.*502_*504del | |
| ENST00000540108.1:c.*941+25_*941+27del | ENSP00000445445.1:n.*941+25_*941+27del | |
| ENST00000541395.5:c.1501+25_1501+27del | ENSP00000443112.1:n.1501+25_1501+27del | |
| ENST00000541924.5:c.*540_*542del | ENSP00000440361.1:n.*540_*542del | |
| ENST00000543255.1:n.570_572del | ||
| ENST00000543427.5:c.964+25_964+27del | ENSP00000439721.2:n.964+25_964+27del | |
| ENST00000544413.2:c.1501+25_1501+27del | ENSP00000438804.1:n.1501+25_1501+27del | |
| ENST00000544574.5:c.*289_*291del | ENSP00000438565.1:n.*289_*291del | |
| ENST00000560968.5:c.1318+25_1318+27del | ||
| ENST00000615446.4:c.289+25_289+27del | ENSP00000483994.1:n.289+25_289+27del | |
| ENST00000617366.4:c.618+25_618+27del | ENSP00000481967.1:n.618+25_618+27del | |
| NM_000545.5:c.1501+25_1501+27del , LRG_522t1:c.1501+25_1501+27del | NP_000536.5:n.1501+25_1501+27del | |
| NM_000545.6:c.1501+25_1501+27del | NP_000536.5:n.1501+25_1501+27del | |
| NM_001306179.1:c.1501+25_1501+27del | NP_001293108.1:n.1501+25_1501+27del | |
| XM_005253931.2:c.1501+25_1501+27del | XP_005253988.1:n.1501+25_1501+27del | |
| XM_024449168.1:c.1501+25_1501+27del | XP_024304936.1:n.1501+25_1501+27del | |
| NM_000545.8:c.1501+25_1501+27del MANE Select | NP_000536.6:n.1501+25_1501+27del | |
| NM_001306179.2:c.1501+25_1501+27del | NP_001293108.2:n.1501+25_1501+27del |