Linked Data
dbSNP Id:
rs1446227048
gnomAD v2:
3-128622827-AAGGATGATGGCCAT-A
gnomAD v3:
3-128903984-AAGGATGATGGCCAT-A
gnomAD v4:
3-128903984-AAGGATGATGGCCAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128903989_128904002del , CM000665.2:g.128903989_128904002del | GRCh38 |
| NC_000003.11:g.128622832_128622845del , CM000665.1:g.128622832_128622845del | GRCh37 |
| NC_000003.10:g.130105522_130105535del | NCBI36 |
| NG_017064.1:g.29500_29513del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.959-73_959-60del MANE Select | ENSP00000312618.7:n.959-73_959-60del | |
| ENST00000511325.2:n.1037-73_1037-60del | ||
| ENST00000679399.1:c.*853-73_*853-60del | ENSP00000505434.1:n.*853-73_*853-60del | |
| ENST00000679431.1:c.*835-73_*835-60del | ENSP00000506440.1:n.*835-73_*835-60del | |
| ENST00000679613.1:c.959-73_959-60del | ENSP00000504971.1:n.959-73_959-60del | |
| ENST00000679715.1:c.590-73_590-60del | ENSP00000506228.1:n.590-73_590-60del | |
| ENST00000679824.1:c.*2265-73_*2265-60del | ENSP00000505516.1:n.*2265-73_*2265-60del | |
| ENST00000679990.1:n.1194-73_1194-60del | ||
| ENST00000680636.1:c.959-73_959-60del | ENSP00000504886.1:n.959-73_959-60del | |
| ENST00000680744.1:c.*312-73_*312-60del | ENSP00000505243.1:n.*312-73_*312-60del | |
| ENST00000680764.1:c.*2363-73_*2363-60del | ENSP00000505126.1:n.*2363-73_*2363-60del | |
| ENST00000681319.1:n.1037-73_1037-60del | ||
| ENST00000681367.1:c.959-73_959-60del | ENSP00000505309.1:n.959-73_959-60del | |
| ENST00000681552.1:c.959-73_959-60del | ENSP00000505699.1:n.959-73_959-60del | |
| ENST00000681583.1:c.959-73_959-60del | ENSP00000506340.1:n.959-73_959-60del | |
| ENST00000681585.1:c.959-73_959-60del | ENSP00000506316.1:n.959-73_959-60del | |
| ENST00000681589.1:n.1173-73_1173-60del | ||
| ENST00000681784.1:n.1037-73_1037-60del | ||
| ENST00000681886.1:c.*152-73_*152-60del | ENSP00000506500.1:n.*152-73_*152-60del | |
| ENST00000308982.11:c.959-73_959-60del | ENSP00000312618.7:n.959-73_959-60del | |
| ENST00000505192.5:c.*655-73_*655-60del | ENSP00000426277.1:n.*655-73_*655-60del | |
| ENST00000505867.5:c.*759-73_*759-60del | ENSP00000425346.1:n.*759-73_*759-60del | |
| ENST00000508971.1:c.248-73_248-60del | ENSP00000422683.1:n.248-73_248-60del | |
| ENST00000511227.5:c.*853-73_*853-60del | ENSP00000425226.1:n.*853-73_*853-60del | |
| ENST00000511526.5:n.464-73_464-60del | ||
| NM_014049.4:c.959-73_959-60del | NP_054768.2:n.959-73_959-60del | |
| NR_033426.1:n.1337-73_1337-60del | ||
| XM_011512742.1:c.590-73_590-60del | XP_011511044.1:n.590-73_590-60del | |
| XR_427367.1:n.1035-73_1035-60del | ||
| XM_024453484.1:c.590-73_590-60del | XP_024309252.1:n.590-73_590-60del | |
| XM_024453485.1:c.590-73_590-60del | XP_024309253.1:n.590-73_590-60del | |
| XR_427367.3:n.1035-73_1035-60del | ||
| NM_014049.5:c.959-73_959-60del MANE Select | NP_054768.2:n.959-73_959-60del | |
| NR_033426.2:n.1207-73_1207-60del |