Canonical Allele Identifier: CA1857107
Community Standard Title: NC_000002.12:g.127052357_127052374del
Gene: BIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127052357_127052374del , CM000664.2:g.127052357_127052374del GRCh38
NC_000002.11:g.127809933_127809950del , CM000664.1:g.127809933_127809950del GRCh37
NC_000002.10:g.127526403_127526420del NCBI36
NG_012042.1:g.59916_59933del

Transcript Alleles

HGVS Amino-acid Change
NM_001320632.1:c.955-1461_955-1444del NP_001307561.1:n.955-1461_955-1444del
NM_001320632.2:c.955-1461_955-1444del NP_001307561.1:n.955-1461_955-1444del
NM_001320633.1:c.1003-1130_1003-1113del NP_001307562.1:n.1003-1130_1003-1113del
NM_001320633.2:c.1003-1130_1003-1113del NP_001307562.1:n.1003-1130_1003-1113del
NM_001320634.1:c.838-1461_838-1444del NP_001307563.1:n.838-1461_838-1444del
NM_001320640.1:c.1132-1130_1132-1113del NP_001307569.1:n.1132-1130_1132-1113del
NM_001320640.2:c.1132-1130_1132-1113del NP_001307569.1:n.1132-1130_1132-1113del
NM_001320641.1:c.1171-11_1177del
NM_001320641.2:c.1171-11_1177del
NM_001320642.1:c.1183-11_1189del
NM_004305.3:c.955-1130_955-1113del NP_004296.1:n.955-1130_955-1113del
NM_004305.4:c.955-1130_955-1113del NP_004296.1:n.955-1130_955-1113del
NM_139343.2:c.1264-11_1270del
NM_139343.3:c.1264-11_1270del
NM_139344.2:c.1135-11_1141del
NM_139344.3:c.1135-11_1141del
NM_139345.2:c.1003-11_1009del
NM_139345.3:c.1003-11_1009del
NM_139346.2:c.1084-1130_1084-1113del NP_647596.1:n.1084-1130_1084-1113del
NM_139346.3:c.1084-1130_1084-1113del NP_647596.1:n.1084-1130_1084-1113del
NM_139347.2:c.1039-11_1045del
NM_139347.3:c.1039-11_1045del
NM_139348.2:c.1039-1130_1039-1113del NP_647598.1:n.1039-1130_1039-1113del
NM_139348.3:c.1039-1130_1039-1113del NP_647598.1:n.1039-1130_1039-1113del
NM_139349.2:c.910-11_916del
NM_139349.3:c.910-11_916del
NM_139350.2:c.910-1130_910-1113del NP_647600.1:n.910-1130_910-1113del
NM_139350.3:c.910-1130_910-1113del NP_647600.1:n.910-1130_910-1113del
NM_139351.2:c.910-1461_910-1444del NP_647601.1:n.910-1461_910-1444del
NM_139351.3:c.910-1461_910-1444del NP_647601.1:n.910-1461_910-1444del
ENST00000259238.8:c.1084-1130_1084-1113del ENSP00000259238.4:n.1084-1130_1084-1113del
ENST00000316724.10:c.1264-11_1270del
ENST00000316724.9:c.1264-11_1270del
ENST00000346226.7:c.1039-11_1045del
ENST00000348750.8:c.910-1461_910-1444del ENSP00000259237.5:n.910-1461_910-1444del
ENST00000351659.7:c.1003-11_1009del
ENST00000352848.7:c.955-1130_955-1113del ENSP00000315284.4:n.955-1130_955-1113del
ENST00000352848.8:c.955-1130_955-1113del ENSP00000315284.4:n.955-1130_955-1113del
ENST00000357970.7:c.1135-11_1141del
ENST00000376113.6:c.955-1461_955-1444del ENSP00000365281.2:n.955-1461_955-1444del
ENST00000393040.7:c.1039-1130_1039-1113del ENSP00000376760.3:n.1039-1130_1039-1113del
ENST00000393041.7:c.910-11_916del
ENST00000409400.1:c.910-1130_910-1113del ENSP00000386797.1:n.910-1130_910-1113del
ENST00000462958.5:n.4119_4136del
ENST00000466111.5:n.546-1130_546-1113del
ENST00000484253.1:n.557-1130_557-1113del
XM_005263642.2:c.1309-11_1315del
XM_005263642.4:c.1309-11_1315del
XM_005263643.2:c.1216-11_1222del
XM_005263643.4:c.1216-11_1222del
XM_005263644.2:c.1171-11_1177del
XM_005263645.1:c.1144-11_1150del
XM_005263645.2:c.1144-11_1150del
XM_005263646.2:c.1003-1130_1003-1113del XP_005263703.1:n.1003-1130_1003-1113del
XM_005263647.2:c.955-1461_955-1444del XP_005263704.1:n.955-1461_955-1444del
XM_005263648.1:c.838-1461_838-1444del XP_005263705.1:n.838-1461_838-1444del
XM_006712425.2:c.1285-1130_1285-1113del XP_006712488.1:n.1285-1130_1285-1113del
XM_006712425.4:c.1285-1130_1285-1113del XP_006712488.1:n.1285-1130_1285-1113del
XM_006712426.2:c.1177-11_1183del
XM_006712426.4:c.1177-11_1183del
XM_006712427.1:c.1099-11_1105del
XM_006712427.2:c.1099-11_1105del
XM_006712428.2:c.1177-1130_1177-1113del XP_006712491.1:n.1177-1130_1177-1113del
XM_006712428.4:c.1177-1130_1177-1113del XP_006712491.1:n.1177-1130_1177-1113del
XM_006712429.2:c.1048-11_1054del
XM_006712429.4:c.1048-11_1054del
XM_006712430.2:c.1132-1130_1132-1113del XP_006712493.1:n.1132-1130_1132-1113del
XM_006712431.2:c.1177-1461_1177-1444del XP_006712494.1:n.1177-1461_1177-1444del
XM_006712431.4:c.1177-1461_1177-1444del XP_006712494.1:n.1177-1461_1177-1444del
XM_006712432.2:c.1048-1130_1048-1113del XP_006712495.1:n.1048-1130_1048-1113del
XM_006712432.4:c.1048-1130_1048-1113del XP_006712495.1:n.1048-1130_1048-1113del
XM_006712433.2:c.1048-1461_1048-1444del XP_006712496.1:n.1048-1461_1048-1444del
XM_006712433.4:c.1048-1461_1048-1444del XP_006712496.1:n.1048-1461_1048-1444del
XM_006712434.2:c.1003-1461_1003-1444del XP_006712497.1:n.1003-1461_1003-1444del
XM_006712434.4:c.1003-1461_1003-1444del XP_006712497.1:n.1003-1461_1003-1444del
XM_011510975.1:c.1228-11_1234del
XM_011510975.3:c.1228-11_1234del
XM_017003819.1:c.1237-11_1243del
XM_017003820.2:c.1147-1130_1147-1113del XP_016859309.1:n.1147-1130_1147-1113del
XM_017003821.2:c.1132-1461_1132-1444del XP_016859310.1:n.1132-1461_1132-1444del
XM_017003822.2:c.1039-1461_1039-1444del XP_016859311.1:n.1039-1461_1039-1444del
XM_017003823.1:c.838-11_844del
XM_017003824.1:c.967-1461_967-1444del XP_016859313.1:n.967-1461_967-1444del
XM_017003825.1:c.931-1461_931-1444del XP_016859314.1:n.931-1461_931-1444del
XM_017003826.1:c.838-1130_838-1113del XP_016859315.1:n.838-1130_838-1113del
XM_017003827.2:c.1048-3740_1048-3723del XP_016859316.1:n.1048-3740_1048-3723del
XM_017003828.2:c.1003-3740_1003-3723del XP_016859317.1:n.1003-3740_1003-3723del