Linked Data
dbSNP Id:
rs750475955
ExAC:
2:25463195 CTT / C
gnomAD v2:
2-25463195-CTT-C
gnomAD v3:
2-25240326-CTT-C
gnomAD v4:
2-25240326-CTT-C
COSMIC:
COSM5944208
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25240327_25240328del , CM000664.2:g.25240327_25240328del | GRCh38 |
| NC_000002.11:g.25463196_25463197del , CM000664.1:g.25463196_25463197del | GRCh37 |
| NC_000002.10:g.25316700_25316701del | NCBI36 |
| NG_029465.2:g.107263_107264del , LRG_459:g.107263_107264del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474887.6:c.615_616del | ||
| ENST00000683393.1:c.1442_1443del | ENSP00000508654.1:n.1442_1443del | |
| ENST00000683760.1:c.1627_1628del | ENSP00000507765.1:p.Lys543GlufsTer15 | |
| ENST00000321117.10:c.2296_2297del MANE Select | ENSP00000324375.5:p.Lys766GlufsTer15 | |
| ENST00000264709.7:c.2296_2297del | ENSP00000264709.3:p.Lys766GlufsTer15 | |
| ENST00000321117.9:c.2296_2297del | ENSP00000324375.5:p.Lys766GlufsTer15 | |
| ENST00000380746.8:c.1729_1730del | ENSP00000370122.4:p.Lys577GlufsTer15 | |
| ENST00000380756.7:c.2296_2297del | ENSP00000370132.3:p.Lys766GlufsTer12 | |
| ENST00000402667.1:c.1627_1628del | ENSP00000384237.1:p.Lys543GlufsTer15 | |
| ENST00000461228.1:n.515_516del | ||
| ENST00000466601.5:n.668_669del | ||
| ENST00000474887.5:n.615_616del | ||
| ENST00000482935.5:n.296_297del | ||
| ENST00000491288.5:n.310+312_310+313del | ||
| NM_022552.4:c.2296_2297del , LRG_459t1:c.2296_2297del | NP_072046.2:p.Lys766GlufsTer15 | |
| NM_153759.3:c.1729_1730del , LRG_459t2:c.1729_1730del | NP_715640.2:p.Lys577GlufsTer15 | |
| NM_175629.2:c.2296_2297del , LRG_459t4:c.2296_2297del | NP_783328.1:p.Lys766GlufsTer15 | |
| XM_005264175.3:c.2296_2297del | XP_005264232.1:p.Lys766GlufsTer15 | |
| XM_005264177.3:c.1627_1628del | XP_005264234.1:p.Lys543GlufsTer15 | |
| XM_006711957.2:c.2296_2297del | XP_006712020.1:p.Lys766GlufsTer15 | |
| XM_006711958.2:c.1852_1853del | XP_006712021.1:p.Lys618GlufsTer15 | |
| XM_011532662.1:c.2149_2150del | XP_011530964.1:p.Lys717GlufsTer15 | |
| XM_011532663.1:c.2131_2132del | XP_011530965.1:p.Lys711GlufsTer15 | |
| XM_011532664.1:c.2296_2297del | XP_011530966.1:p.Lys766GlufsTer12 | |
| XM_011532665.1:c.1840_1841del | XP_011530967.1:p.Lys614GlufsTer15 | |
| XM_011532666.1:c.1768_1769del | XP_011530968.1:p.Lys590GlufsTer15 | |
| XM_011532667.1:c.1627_1628del | XP_011530969.1:p.Lys543GlufsTer15 | |
| XM_011532668.1:c.2296_2297del | XP_011530970.1:p.Lys766GlufsTer12 | |
| NM_001320893.1:c.1840_1841del | NP_001307822.1:p.Lys614GlufsTer15 | |
| NR_135490.1:n.2634_2635del | ||
| XM_005264175.5:c.2296_2297del | XP_005264232.1:p.Lys766GlufsTer15 | |
| XM_005264177.4:c.1627_1628del | XP_005264234.1:p.Lys543GlufsTer15 | |
| XM_011532662.2:c.2149_2150del | XP_011530964.1:p.Lys717GlufsTer15 | |
| XM_011532663.2:c.2131_2132del | XP_011530965.1:p.Lys711GlufsTer15 | |
| XM_011532664.2:c.2296_2297del | XP_011530966.1:p.Lys766GlufsTer12 | |
| XM_011532666.2:c.1768_1769del | XP_011530968.1:p.Lys590GlufsTer15 | |
| XM_011532667.3:c.1627_1628del | XP_011530969.1:p.Lys543GlufsTer15 | |
| XM_017003526.1:c.2296_2297del | XP_016859015.1:p.Lys766GlufsTer15 | |
| XM_017003527.1:c.1627_1628del | XP_016859016.1:p.Lys543GlufsTer15 | |
| XR_001738657.1:n.2573_2574del | ||
| NM_001375819.1:c.1627_1628del | NP_001362748.1:p.Lys543GlufsTer15 | |
| NR_135490.2:n.2527_2528del | ||
| NM_022552.5:c.2296_2297del MANE Select | NP_072046.2:p.Lys766GlufsTer15 |