Canonical Allele Identifier: CA1362363037

Gene: NBEAL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.47000147_47000148del , CM000665.2:g.47000147_47000148del	GRCh38
NC_000003.11:g.47041637_47041638del , CM000665.1:g.47041637_47041638del	GRCh37
NC_000003.10:g.47016641_47016642del	NCBI36
NG_031914.1:g.25465_25466del , LRG_568:g.25465_25466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450053.8:c.4048_4049del MANE Select	ENSP00000415034.2:p.Ser1350ProfsTer7
ENST00000651747.1:c.3946_3947del	ENSP00000499216.1:p.Ser1316ProfsTer7
ENST00000652744.1:n.385_386del
ENST00000416683.5:c.1960-49_1960-48del
ENST00000450053.7:c.4048_4049del	ENSP00000415034.2:p.Ser1350ProfsTer7
NM_015175.2:c.4048_4049del , LRG_568t1:c.4048_4049del	NP_055990.1:p.Ser1350ProfsTer7
XM_005264992.2:c.3946_3947del	XP_005265049.1:p.Ser1316ProfsTer7
XM_005264993.2:c.520_521del	XP_005265050.1:p.Ser174ProfsTer7
XM_006713072.2:c.3967_3968del	XP_006713135.1:p.Ser1323ProfsTer7
XM_011533532.1:c.4027_4028del	XP_011531834.1:p.Ser1343ProfsTer7
XM_011533533.1:c.4048_4049del	XP_011531835.1:p.Ser1350ProfsTer7
XM_011533534.1:c.3679_3680del	XP_011531836.1:p.Ser1227ProfsTer7
XM_011533535.1:c.3508_3509del	XP_011531837.1:p.Ser1170ProfsTer7
XM_011533536.1:c.3394_3395del	XP_011531838.1:p.Ser1132ProfsTer7
XM_011533537.1:c.2956_2957del	XP_011531839.1:p.Ser986ProfsTer7
XR_940397.1:n.4224_4225del
XR_940398.1:n.4224_4225del
NM_001365116.1:c.3946_3947del	NP_001352045.1:p.Ser1316ProfsTer7
XM_006713072.3:c.3967_3968del	XP_006713135.1:p.Ser1323ProfsTer7
XM_011533533.2:c.4048_4049del	XP_011531835.1:p.Ser1350ProfsTer7
XM_017006010.1:c.4048_4049del	XP_016861499.1:p.Ser1350ProfsTer7
XM_017006011.1:c.4027_4028del	XP_016861500.1:p.Ser1343ProfsTer7
XM_017006012.1:c.3967_3968del	XP_016861501.1:p.Ser1323ProfsTer7
XM_017006013.1:c.4048_4049del	XP_016861502.1:p.Ser1350ProfsTer7
XM_017006014.1:c.3946_3947del	XP_016861503.1:p.Ser1316ProfsTer7
XM_017006015.1:c.3679_3680del	XP_016861504.1:p.Ser1227ProfsTer7
XM_017006016.1:c.3508_3509del	XP_016861505.1:p.Ser1170ProfsTer7
XM_017006017.1:c.520_521del	XP_016861506.1:p.Ser174ProfsTer7
XR_940397.2:n.4224_4225del
NM_001365116.2:c.3946_3947del	NP_001352045.1:p.Ser1316ProfsTer7
NM_015175.3:c.4048_4049del MANE Select	NP_055990.1:p.Ser1350ProfsTer7