Linked Data
dbSNP Id:
rs753089697
ExAC:
2:25457282 CA / C
gnomAD v2:
2-25457282-CA-C
gnomAD v4:
2-25234413-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25234416del , CM000664.2:g.25234416del | GRCh38 |
| NC_000002.11:g.25457285del , CM000664.1:g.25457285del | GRCh37 |
| NC_000002.10:g.25310789del | NCBI36 |
| NG_029465.2:g.113177del , LRG_459:g.113177del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.853del | ||
| ENST00000683393.1:c.1750del | ENSP00000508654.1:n.1750del | |
| ENST00000683760.1:c.1935del | ENSP00000507765.1:p.Phe645LeufsTer13 | |
| ENST00000321117.10:c.2604del MANE Select | ENSP00000324375.5:p.Phe868LeufsTer13 | |
| ENST00000264709.7:c.2604del | ENSP00000264709.3:p.Phe868LeufsTer13 | |
| ENST00000321117.9:c.2604del | ENSP00000324375.5:p.Phe868LeufsTer13 | |
| ENST00000380746.8:c.2037del | ENSP00000370122.4:p.Phe679LeufsTer13 | |
| ENST00000380756.7:c.*457del | ENSP00000370132.3:n.*457del | |
| ENST00000402667.1:c.1935del | ENSP00000384237.1:p.Phe645LeufsTer13 | |
| NM_022552.4:c.2604del , LRG_459t1:c.2604del | NP_072046.2:p.Phe868LeufsTer13 | |
| NM_153759.3:c.2037del , LRG_459t2:c.2037del | NP_715640.2:p.Phe679LeufsTer13 | |
| NM_175629.2:c.2604del , LRG_459t4:c.2604del | NP_783328.1:p.Phe868LeufsTer13 | |
| XM_005264175.3:c.2604del | XP_005264232.1:p.Phe868LeufsTer13 | |
| XM_005264177.3:c.1935del | XP_005264234.1:p.Phe645LeufsTer13 | |
| XM_006711958.2:c.2160del | XP_006712021.1:p.Phe720LeufsTer13 | |
| XM_011532662.1:c.2457del | XP_011530964.1:p.Phe819LeufsTer13 | |
| XM_011532663.1:c.2439del | XP_011530965.1:p.Phe813LeufsTer13 | |
| XM_011532665.1:c.2148del | XP_011530967.1:p.Phe716LeufsTer13 | |
| XM_011532666.1:c.2076del | XP_011530968.1:p.Phe692LeufsTer13 | |
| XM_011532667.1:c.1935del | XP_011530969.1:p.Phe645LeufsTer13 | |
| NM_001320893.1:c.2148del | NP_001307822.1:p.Phe716LeufsTer13 | |
| NR_135490.1:n.3141del | ||
| XM_005264175.5:c.2604del | XP_005264232.1:p.Phe868LeufsTer13 | |
| XM_005264177.4:c.1935del | XP_005264234.1:p.Phe645LeufsTer13 | |
| XM_011532662.2:c.2457del | XP_011530964.1:p.Phe819LeufsTer13 | |
| XM_011532663.2:c.2439del | XP_011530965.1:p.Phe813LeufsTer13 | |
| XM_011532666.2:c.2076del | XP_011530968.1:p.Phe692LeufsTer13 | |
| XM_011532667.3:c.1935del | XP_011530969.1:p.Phe645LeufsTer13 | |
| XM_017003526.1:c.2604del | XP_016859015.1:p.Phe868LeufsTer13 | |
| XM_017003527.1:c.1935del | XP_016859016.1:p.Phe645LeufsTer13 | |
| XR_001738657.1:n.2811del | ||
| NM_001375819.1:c.1935del | NP_001362748.1:p.Phe645LeufsTer13 | |
| NR_135490.2:n.3034del | ||
| NM_022552.5:c.2604del MANE Select | NP_072046.2:p.Phe868LeufsTer13 |