Linked Data
dbSNP Id:
rs747694165
ExAC:
3:128622997 AT / A
gnomAD v2:
3-128622997-AT-A
gnomAD v4:
3-128904154-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128904157del , CM000665.2:g.128904157del | GRCh38 |
| NC_000003.11:g.128623000del , CM000665.1:g.128623000del | GRCh37 |
| NC_000003.10:g.130105690del | NCBI36 |
| NG_017064.1:g.29668del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.1029+25del MANE Select | ENSP00000312618.7:n.1029+25del | |
| ENST00000511325.2:n.1107+25del | ||
| ENST00000679399.1:c.*923+25del | ENSP00000505434.1:n.*923+25del | |
| ENST00000679431.1:c.*905+25del | ENSP00000506440.1:n.*905+25del | |
| ENST00000679613.1:c.1029+25del | ENSP00000504971.1:n.1029+25del | |
| ENST00000679715.1:c.660+25del | ENSP00000506228.1:n.660+25del | |
| ENST00000679824.1:c.*2335+25del | ENSP00000505516.1:n.*2335+25del | |
| ENST00000679990.1:n.1264+25del | ||
| ENST00000680636.1:c.1029+25del | ENSP00000504886.1:n.1029+25del | |
| ENST00000680744.1:c.*382+25del | ENSP00000505243.1:n.*382+25del | |
| ENST00000680764.1:c.*2433+25del | ENSP00000505126.1:n.*2433+25del | |
| ENST00000681319.1:n.1107+25del | ||
| ENST00000681367.1:c.1029+25del | ENSP00000505309.1:n.1029+25del | |
| ENST00000681552.1:c.1029+25del | ENSP00000505699.1:n.1029+25del | |
| ENST00000681583.1:c.1029+25del | ENSP00000506340.1:n.1029+25del | |
| ENST00000681585.1:c.1029+25del | ENSP00000506316.1:n.1029+25del | |
| ENST00000681589.1:n.1243+25del | ||
| ENST00000681784.1:n.1107+25del | ||
| ENST00000681886.1:c.*222+25del | ENSP00000506500.1:n.*222+25del | |
| ENST00000308982.11:c.1029+25del | ENSP00000312618.7:n.1029+25del | |
| ENST00000505192.5:c.*725+25del | ENSP00000426277.1:n.*725+25del | |
| ENST00000505867.5:c.*829+25del | ENSP00000425346.1:n.*829+25del | |
| ENST00000508971.1:c.318+25del | ENSP00000422683.1:n.318+25del | |
| ENST00000511227.5:c.*923+25del | ENSP00000425226.1:n.*923+25del | |
| ENST00000511526.5:n.534+25del | ||
| NM_014049.4:c.1029+25del | NP_054768.2:n.1029+25del | |
| NR_033426.1:n.1407+25del | ||
| XM_011512742.1:c.660+25del | XP_011511044.1:n.660+25del | |
| XR_427367.1:n.1105+25del | ||
| XM_024453484.1:c.660+25del | XP_024309252.1:n.660+25del | |
| XM_024453485.1:c.660+25del | XP_024309253.1:n.660+25del | |
| XR_427367.3:n.1105+25del | ||
| NM_014049.5:c.1029+25del MANE Select | NP_054768.2:n.1029+25del | |
| NR_033426.2:n.1277+25del |