Linked Data
ClinVar Variation Id:
617650
dbSNP Id:
rs776793516
ExAC:
12:121435294 GCA / G
gnomAD v2:
12-121435294-GCA-G
gnomAD v4:
12-120997491-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120997494_120997495del , CM000674.2:g.120997494_120997495del | GRCh38 |
| NC_000012.11:g.121435297_121435298del , CM000674.1:g.121435297_121435298del | GRCh37 |
| NC_000012.10:g.119919680_119919681del | NCBI36 |
| NG_011731.2:g.23749_23750del , LRG_522:g.23749_23750del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.*77_*78del | ENSP00000453965.2:n.*77_*78del | |
| ENST00000257555.11:c.1330_1331del MANE Select | ENSP00000257555.5:p.Gln444GlufsTer? | |
| ENST00000257555.10:c.1330_1331del | ENSP00000257555.4:p.Gln444GlufsTer? | |
| ENST00000400024.6:c.1330_1331del | ENSP00000476181.1:p.Gln444GlufsTer? | |
| ENST00000402929.5:n.2196_2197del | ||
| ENST00000535955.5:n.46_47del | ||
| ENST00000538626.2:n.194_195del | ||
| ENST00000538646.5:c.*306_*307del | ENSP00000443964.1:n.*306_*307del | |
| ENST00000540108.1:c.*770_*771del | ENSP00000445445.1:n.*770_*771del | |
| ENST00000541395.5:c.1330_1331del | ENSP00000443112.1:p.Gln444GlufsTer? | |
| ENST00000541924.5:c.*344_*345del | ENSP00000440361.1:n.*344_*345del | |
| ENST00000543255.1:n.374_375del | ||
| ENST00000543427.5:c.793_794del | ENSP00000439721.2:p.Gln265GlufsTer? | |
| ENST00000544413.2:c.1330_1331del | ENSP00000438804.1:p.Gln444GlufsTer? | |
| ENST00000544574.5:c.*93_*94del | ENSP00000438565.1:n.*93_*94del | |
| ENST00000560968.5:c.1147_1148del | ||
| ENST00000615446.4:c.118_119del | ENSP00000483994.1:p.Gln40GlufsTer? | |
| ENST00000617366.4:c.587-140_587-139del | ENSP00000481967.1:n.587-140_587-139del | |
| NM_000545.5:c.1330_1331del , LRG_522t1:c.1330_1331del | NP_000536.5:p.Gln444GlufsTer? | |
| NM_000545.6:c.1330_1331del | NP_000536.5:p.Gln444GlufsTer? | |
| NM_001306179.1:c.1330_1331del | NP_001293108.1:p.Gln444GlufsTer? | |
| XM_005253931.2:c.1330_1331del | XP_005253988.1:p.Gln444GlufsTer? | |
| XM_024449168.1:c.1330_1331del | XP_024304936.1:p.Gln444GlufsTer? | |
| NM_000545.8:c.1330_1331del MANE Select | NP_000536.6:p.Gln444GlufsTer? | |
| NM_001306179.2:c.1330_1331del | NP_001293108.2:p.Gln444GlufsTer? |