Canonical Allele Identifier: CA2580063779
Gene: BIN1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127050905del , CM000664.2:g.127050905del GRCh38
NC_000002.11:g.127808481del , CM000664.1:g.127808481del GRCh37
NC_000002.10:g.127524951del NCBI36
NG_012042.1:g.61385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000352848.8:c.1053del ENSP00000315284.4:p.Pro352LeufsTer12
ENST00000316724.10:c.1470del MANE Select ENSP00000316779.5:p.Pro491LeufsTer12
ENST00000259238.8:c.1182del ENSP00000259238.4:p.Pro395LeufsTer12
ENST00000316724.9:c.1470del ENSP00000316779.5:p.Pro491LeufsTer12
ENST00000346226.7:c.1245del ENSP00000315411.3:p.Pro416LeufsTer12
ENST00000348750.8:c.918del ENSP00000259237.5:p.Pro307LeufsTer12
ENST00000351659.7:c.1209del ENSP00000315388.3:p.Pro404LeufsTer12
ENST00000352848.7:c.1053del ENSP00000315284.4:p.Pro352LeufsTer12
ENST00000357970.7:c.1341del ENSP00000350654.3:p.Pro448LeufsTer12
ENST00000376113.6:c.963del ENSP00000365281.2:p.Pro322LeufsTer12
ENST00000393040.7:c.1137del ENSP00000376760.3:p.Pro380LeufsTer12
ENST00000393041.7:c.1116del ENSP00000376761.3:p.Pro373LeufsTer12
ENST00000409400.1:c.1008del ENSP00000386797.1:p.Pro337LeufsTer12
ENST00000462958.5:n.4336del
ENST00000466111.5:n.644del
ENST00000484253.1:n.655del
NM_004305.3:c.1053del NP_004296.1:p.Pro352LeufsTer12
NM_139343.2:c.1470del NP_647593.1:p.Pro491LeufsTer12
NM_139344.2:c.1341del NP_647594.1:p.Pro448LeufsTer12
NM_139345.2:c.1209del NP_647595.1:p.Pro404LeufsTer12
NM_139346.2:c.1182del NP_647596.1:p.Pro395LeufsTer12
NM_139347.2:c.1245del NP_647597.1:p.Pro416LeufsTer12
NM_139348.2:c.1137del NP_647598.1:p.Pro380LeufsTer12
NM_139349.2:c.1116del NP_647599.1:p.Pro373LeufsTer12
NM_139350.2:c.1008del NP_647600.1:p.Pro337LeufsTer12
NM_139351.2:c.918del NP_647601.1:p.Pro307LeufsTer12
XM_005263642.2:c.1515del XP_005263699.1:p.Pro506LeufsTer12
XM_005263643.2:c.1422del XP_005263700.1:p.Pro475LeufsTer12
XM_005263644.2:c.1377del XP_005263701.1:p.Pro460LeufsTer12
XM_005263645.1:c.1350del XP_005263702.1:p.Pro451LeufsTer12
XM_005263646.2:c.1101del XP_005263703.1:p.Pro368LeufsTer12
XM_005263647.2:c.963del XP_005263704.1:p.Pro322LeufsTer12
XM_005263648.1:c.846del XP_005263705.1:p.Pro283LeufsTer12
XM_006712425.2:c.1383del XP_006712488.1:p.Pro462LeufsTer12
XM_006712426.2:c.1383del XP_006712489.1:p.Pro462LeufsTer12
XM_006712427.1:c.1305del XP_006712490.1:p.Pro436LeufsTer12
XM_006712428.2:c.1275del XP_006712491.1:p.Pro426LeufsTer12
XM_006712429.2:c.1254del XP_006712492.1:p.Pro419LeufsTer12
XM_006712430.2:c.1230del XP_006712493.1:p.Pro411LeufsTer12
XM_006712431.2:c.1185del XP_006712494.1:p.Pro396LeufsTer12
XM_006712432.2:c.1146del XP_006712495.1:p.Pro383LeufsTer12
XM_006712433.2:c.1056del XP_006712496.1:p.Pro353LeufsTer12
XM_006712434.2:c.1011del XP_006712497.1:p.Pro338LeufsTer12
XM_011510975.1:c.1434del XP_011509277.1:p.Pro479LeufsTer12
NM_001320632.1:c.963del NP_001307561.1:p.Pro322LeufsTer12
NM_001320633.1:c.1101del NP_001307562.1:p.Pro368LeufsTer12
NM_001320634.1:c.846del NP_001307563.1:p.Pro283LeufsTer12
NM_001320640.1:c.1230del NP_001307569.1:p.Pro411LeufsTer12
NM_001320641.1:c.1377del NP_001307570.1:p.Pro460LeufsTer12
NM_001320642.1:c.1389del NP_001307571.1:p.Pro464LeufsTer12
XM_005263642.4:c.1515del XP_005263699.1:p.Pro506LeufsTer12
XM_005263643.4:c.1422del XP_005263700.1:p.Pro475LeufsTer12
XM_005263645.2:c.1350del XP_005263702.1:p.Pro451LeufsTer12
XM_006712425.4:c.1383del XP_006712488.1:p.Pro462LeufsTer12
XM_006712426.4:c.1383del XP_006712489.1:p.Pro462LeufsTer12
XM_006712427.2:c.1305del XP_006712490.1:p.Pro436LeufsTer12
XM_006712428.4:c.1275del XP_006712491.1:p.Pro426LeufsTer12
XM_006712429.4:c.1254del XP_006712492.1:p.Pro419LeufsTer12
XM_006712431.4:c.1185del XP_006712494.1:p.Pro396LeufsTer12
XM_006712432.4:c.1146del XP_006712495.1:p.Pro383LeufsTer12
XM_006712433.4:c.1056del XP_006712496.1:p.Pro353LeufsTer12
XM_006712434.4:c.1011del XP_006712497.1:p.Pro338LeufsTer12
XM_011510975.3:c.1434del XP_011509277.1:p.Pro479LeufsTer12
XM_017003819.1:c.1443del XP_016859308.1:p.Pro482LeufsTer12
XM_017003820.2:c.1245del XP_016859309.1:p.Pro416LeufsTer12
XM_017003821.2:c.1140del XP_016859310.1:p.Pro381LeufsTer12
XM_017003822.2:c.1047del XP_016859311.1:p.Pro350LeufsTer12
XM_017003823.1:c.1044del XP_016859312.1:p.Pro349LeufsTer12
XM_017003824.1:c.975del XP_016859313.1:p.Pro326LeufsTer12
XM_017003825.1:c.939del XP_016859314.1:p.Pro314LeufsTer12
XM_017003826.1:c.936del XP_016859315.1:p.Pro313LeufsTer12
XM_017003827.2:c.1048-2271del XP_016859316.1:n.1048-2271del
XM_017003828.2:c.1003-2271del XP_016859317.1:n.1003-2271del
NM_139343.3:c.1470del MANE Select NP_647593.1:p.Pro491LeufsTer12
NM_001320632.2:c.963del NP_001307561.1:p.Pro322LeufsTer12
NM_001320633.2:c.1101del NP_001307562.1:p.Pro368LeufsTer12
NM_001320640.2:c.1230del NP_001307569.1:p.Pro411LeufsTer12
NM_001320641.2:c.1377del NP_001307570.1:p.Pro460LeufsTer12
NM_004305.4:c.1053del NP_004296.1:p.Pro352LeufsTer12
NM_139344.3:c.1341del NP_647594.1:p.Pro448LeufsTer12
NM_139345.3:c.1209del NP_647595.1:p.Pro404LeufsTer12
NM_139346.3:c.1182del NP_647596.1:p.Pro395LeufsTer12
NM_139347.3:c.1245del NP_647597.1:p.Pro416LeufsTer12
NM_139348.3:c.1137del NP_647598.1:p.Pro380LeufsTer12
NM_139349.3:c.1116del NP_647599.1:p.Pro373LeufsTer12
NM_139350.3:c.1008del NP_647600.1:p.Pro337LeufsTer12
NM_139351.3:c.918del NP_647601.1:p.Pro307LeufsTer12