Linked Data
dbSNP Id:
rs764834511
ExAC:
12:53823756 AG / A
gnomAD v2:
12-53823756-AG-A
gnomAD v4:
12-53429972-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53429974del , CM000674.2:g.53429974del | GRCh38 |
| NC_000012.11:g.53823758del , CM000674.1:g.53823758del | GRCh37 |
| NC_000012.10:g.52110025del | NCBI36 |
| NG_015981.1:g.11120del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257863.9:c.1284del MANE Select | ENSP00000257863.3:p.Arg428SerfsTer? | |
| ENST00000257863.8:c.1284del | ENSP00000257863.3:p.Arg428SerfsTer? | |
| ENST00000379791.7:c.1140+349del | ENSP00000369117.3:n.1140+349del | |
| ENST00000550311.5:c.1284del | ENSP00000446661.1:p.Arg428SerfsTer12 | |
| ENST00000550839.1:c.375del | ENSP00000455338.1:p.Arg125SerfsTer? | |
| ENST00000552233.5:n.872del | ||
| NM_001164690.1:c.1284del | NP_001158162.1:p.Arg428SerfsTer12 | |
| NM_001164691.1:c.1140+349del | NP_001158163.1:n.1140+349del | |
| NM_020547.2:c.1284del | NP_065434.1:p.Arg428SerfsTer? | |
| XM_011538173.1:c.1344del | XP_011536475.1:p.Arg448SerfsTer? | |
| XM_011538174.1:c.1341del | XP_011536476.1:p.Arg447SerfsTer? | |
| XM_011538175.1:c.1326del | XP_011536477.1:p.Arg442SerfsTer? | |
| XM_011538176.1:c.1287del | XP_011536478.1:p.Arg429SerfsTer? | |
| XM_011538177.1:c.1266del | XP_011536479.1:p.Arg422SerfsTer? | |
| XM_011538178.1:c.1125del | XP_011536480.1:p.Arg375SerfsTer? | |
| XM_011538179.1:c.1200+349del | XP_011536481.1:n.1200+349del | |
| XM_011538180.1:c.1011del | XP_011536482.1:p.Arg337SerfsTer? | |
| XM_011538181.1:c.1008del | XP_011536483.1:p.Arg336SerfsTer? | |
| XM_011538182.1:c.933del | XP_011536484.1:p.Arg311SerfsTer? | |
| XM_011538183.1:c.1201-172del | XP_011536485.1:n.1201-172del | |
| XM_011538184.1:c.1220+329del | XP_011536486.1:n.1220+329del | |
| XM_011538185.1:c.856-1203del | XP_011536487.1:n.856-1203del | |
| XM_011538186.1:c.459del | XP_011536488.1:p.Arg153SerfsTer? | |
| NM_001164690.2:c.1284del | NP_001158162.1:p.Arg428SerfsTer12 | |
| NM_001164691.2:c.1140+349del | NP_001158163.1:n.1140+349del | |
| NM_020547.3:c.1284del MANE Select | NP_065434.1:p.Arg428SerfsTer? | |
| XM_011538183.2:c.1201-172del | XP_011536485.1:n.1201-172del | |
| XM_011538184.2:c.1220+329del | XP_011536486.1:n.1220+329del | |
| XM_011538186.3:c.459del | XP_011536488.1:p.Arg153SerfsTer? | |
| XM_017019179.2:c.1344del | XP_016874668.1:p.Arg448SerfsTer? | |
| XM_024448938.1:c.1143+349del | XP_024304706.1:n.1143+349del | |
| XR_002957309.1:n.1252del | ||
| XR_002957310.1:n.1109-172del | ||
| XR_002957311.1:n.1252del | ||
| XR_002957312.1:n.1108+349del |